scholarly journals Incidental Severe Fatty Degeneration of the Erector Spinae in a Patient with L5–S1 Disc Extrusion Diagnosed with Limb-Girdle Muscular Dystrophy R2 Dysferin-Related

Diagnostics ◽  
2020 ◽  
Vol 10 (8) ◽  
pp. 530
Author(s):  
Du Hwan Kim ◽  
Dae-Hyun Jang ◽  
Ja-Hyun Jang
Keyword(s):  
Muscular Dystrophy ◽  
Previous History ◽  
Fatty Degeneration ◽  
Limb Girdle Muscular Dystrophy ◽  
Erector Spinae ◽  
Leg Pain ◽  
Compound Heterozygous ◽  
Limb Weakness ◽  
Adductor Muscles ◽  
Disc Extrusion

Limb-girdle muscular dystrophy type R2 dysferin-related (LGMD R2 dysferin-related), a phenotype of dysferlinopathy, usually begins with pelvic girdle weakness. A 35-year-old male presented with right leg pain for 2 weeks without a previous history of limb weakness. Magnetic resonance imaging of the lumbar spine showed disc extrusion at L5–S1 and incidental severe fatty degeneration of the lumbar erector spinae. Physical examination demonstrated no definite limb weakness. Serum creatine kinase levels were elevated. Genetic testing using a targeted gene-sequencing panel identified compound heterozygous variants NM_003494.3(DYSF) c.[1284+2T>C]; [5303G>A]. Computed tomography revealed fatty degeneration of lower-limb muscles, which was mild in the adductor muscles and severe in the gluteus minimus. Immunohistochemistry staining of the vastus lateralis showed under-expression of dysferlin. This patient was diagnosed with LGMD R2 dysferin-related. Thus, unusual fatty degeneration of the lumbar paraspinalis can be a manifestation of dysferlinopathy.

scholarly journals Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review

2019 ◽  
Author(s):  
LiuQing Sun ◽  
DingGuo Shen ◽  
Ting Xiong ◽  
Zhibin Zhou ◽  
Xianghui Lu ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Gene Mutations ◽  
Fatty Degeneration ◽  
Limb Girdle Muscular Dystrophy ◽  
Compound Heterozygous ◽  
Limb Weakness ◽  
Additional Information ◽  
Guanosine Diphosphate ◽  
Muscle Magnetic Resonance Imaging ◽  
Magnetic Resonance Imaging Mri

Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene are rare. To date, 72 cases with GMPPB gene mutations have been reported. Herein, we reported a case of a 29-year-old Chinese male presenting with limb-girdle muscular dystrophy (LGMD) who was found to have two heterozygous GMPPB mutations. The patient had a progressive limb weakness for 19 years. His parents and elder brother were normal. On examination he had a waddling gait, and absent tendon reflexes in all four limbs. Electromyography showed myogenic damage. Muscle magnetic resonance imaging (MRI) showed fatty degeneration in the bilateral medial thigh muscles. High throughput gene panel sequencing revealed that the patient carried compound heterozygous mutations in the GMPPB gene, c.553C>T (p.R185C, maternal inheritance) and c.346C>T (p.P116S, paternal inheritance). This case provides additional information regarding the phenotypic spectrum of GMPPB mutations in the Chinese population.

scholarly journals Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Evelina Siavrienė ◽  
Gunda Petraitytė ◽  
Birutė Burnytė ◽  
Aušra Morkūnienė ◽  
Violeta Mikštienė ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Premature Termination Codon ◽  
Limb Girdle Muscular Dystrophy ◽  
Lower Limbs ◽  
Compound Heterozygous ◽  
Targeted Next Generation Sequencing ◽  
Splicing Variant ◽  
Cdna Analysis ◽  
Compound Heterozygous Variants

Abstract Background Autosomal recessive limb–girdle muscular dystrophy-1 (LGMDR1), also known as calpainopathy, is a genetically heterogeneous disorder characterised by progression of muscle weakness. Homozygous or compound heterozygous variants in the CAPN3 gene are known genetic causes of this condition. The aim of this study was to confirm the molecular consequences of the CAPN3 variant NG_008660.1(NM_000070.3):c.1746-20C > G of an individual with suspected LGMDR1 by extensive complementary DNA (cDNA) analysis. Case presentation In the present study, we report on a male with proximal muscular weakness in his lower limbs. Compound heterozygous NM_000070.3:c.598_612del and NG_008660.1(NM_000070.3):c.1746-20C > G genotype was detected on the CAPN3 gene by targeted next-generation sequencing (NGS). To confirm the pathogenicity of the variant c.1746-20C > G, we conducted genetic analysis based on Sanger sequencing of the proband’s cDNA sample. The results revealed that this splicing variant disrupts the original 3′ splice site on intron 13, thus leading to the skipping of the DNA fragment involving exon 14 and possibly exon 15. However, the lack of exon 15 in the CAPN3 isoforms present in a blood sample was explained by cell-specific alternative splicing rather than an aberrant splicing mechanism. In silico the c.1746-20C > G splicing variant consequently resulted in frameshift and formation of a premature termination codon (NP_000061.1:p.(Glu582Aspfs*62)). Conclusions Based on the results of our study and the literature we reviewed, both c.598_612del and c.1746-20C > G variants are pathogenic and together cause LGMDR1. Therefore, extensive mRNA and/or cDNA analysis of splicing variants is critical to understand the pathogenesis of the disease.

scholarly journals A case of pseudodominant inheritance of limb-girdle muscular dystrophy caused by mutations in the CAPN3 gene

2021 ◽  
Vol 15 (3) ◽  
pp. 85-91
Author(s):  
Inna V. Sharkova ◽  
Maria V. Bulakh ◽  
Liudmila А. Bessonova ◽  
Olga A. Shchagina ◽  
Elena L. Dadaly
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Disease Onset ◽  
Limb Girdle Muscular Dystrophy ◽  
Compound Heterozygous ◽  
Carrier Status ◽  
Heterozygous Carrier ◽  
Calpain 3 ◽  
Capn3 Gene

Introduction. Limb-girdle muscular dystrophy (LGMD) includes more than 30 forms caused by mutations in genes located on autosomes. The most common form is calpain-3-related LGMD, with autosomal recessive inheritance pattern (OMIM 253600). An autosomal dominant form of LGMD (OMIM 618129) caused by c.643_663del heterozygous mutation in the CAPN3 gene is also supposed to exist. This article describes a family case of LGMD caused by mutations in the CAPN3 gene with pseudodominant inheritance. Materials and methods. Two patients with LGMD were studied: a 59-year-old woman and her 38-year-old daughter. Clinical, genealogical and molecular genetics methods were used: limb girdle muscular dystrophy MPS panel, Sanger sequencing of DNA of the proband, her affected daughter, and six first- and second-degree relatives across four generations. Results. It was found that identical variants of the nucleotide sequence, c.598_612del and c.1746-20CG, identified in the CAPN3 gene of the proband and her daughter, are in the trans position (compound heterozygous state), causing autosomal recessive calpain-3-related LGMD. This is an example of an incredibly rare pseudodominant inheritance of an autosomal recessive disease, established through indirect evidence that the probands husband is a heterozygous carrier of a nucleotide substitution in the CAPN3 gene. Conclusion. It is crucial to examine the marriage partner for heterozygous carrier status of a gene mutation responsible for the disease in family planning and when clarifying the childs prognosis for a patient with an autosomal recessive disease. Considering the existence of a late-onset (after 30 years) LGMD phenotype associated with the CAPN3 gene, differential diagnosis should begin with testing this gene in families with late disease onset.

Compound heterozygous DYSF variants causing limb‐girdle muscular dystrophy type 2B in a Chinese family

2020 ◽  
Vol 22 (11) ◽  
Author(s):  
Liangshan Li ◽  
Zhongcui Jing ◽  
Lei Cheng ◽  
Wenmiao Liu ◽  
Haiyan Wang ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Chinese Family ◽  
Compound Heterozygous

scholarly journals Novel compound heterozygous PLEC mutations lead to early-onset limb-girdle muscular dystrophy 2Q

2017 ◽  
Vol 15 (5) ◽  
pp. 2760-2764 ◽  
Author(s):  
Jingzi Zhong ◽  
Gang Chen ◽  
Yiwu Dang ◽  
Haixia Liao ◽  
Jiapeng Zhang ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Early Onset ◽  
Limb Girdle Muscular Dystrophy ◽  
Compound Heterozygous

scholarly journals A case report: autosomal recessive limb girdle muscular dystrophy caused by a novel mutation (c. 287A > G) in POMT2 gene of a Chinese Han patient

2019 ◽  
Author(s):  
Yanlu Gao ◽  
Zhixia Kang ◽  
Xiaojing Wei ◽  
Jing Miao ◽  
Xuefan Yu
Keyword(s):  
Creatine Kinase ◽  
Cognitive Impairment ◽  
Case Report ◽  
Muscular Dystrophy ◽  
Muscle Weakness ◽  
Autosomal Recessive ◽  
Limb Girdle Muscular Dystrophy ◽  
Compound Heterozygous ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle

Abstract BACKGROUND Autosomal recessive limb girdle muscular dystrophy 2N is caused by mutations in the POMT2 gene. The disease is characterized by proximal muscle weakness,with minimal progression, with cognitive impairment,a significantly elevated serum level of creatine kinase. CASE PRESENTATION A 9-year-old boy presented with proximal muscle weakness since the last 4 years,with minimal progression.There was no significant family history.Medical examination showed no generalized muscle hypertrophy. Serum creatine kinase level was 52-fold higher than the normal value. Wechsler Intelligence scale for Children (WISC, 4) suggested mild cognitive impairment (IQ =74). DNA sequence analysis identified a novel missense mutation (c. 287A > G) and a known mutation (c. 1261C > T). CONCLUSIONS This case report of autosomal recessive limb girdle muscular dystrophy 2N caused by a novel compound heterozygous mutation expands the genotypic spectrum of POMT2 gene.

scholarly journals Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1

2021 ◽  
Vol 23 (6) ◽  
Author(s):  
Cheng Zhang ◽  
Xueping Zheng ◽  
Deguo Lu ◽  
Lulu Xu ◽  
Fengyuan Che ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Compound Heterozygous
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