Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain

2019 ◽  
Vol 266 (2) ◽  
pp. 498-506 ◽  
Author(s):  
Yanan Sun ◽  
Hai Chen ◽  
Yan Lu ◽  
Jianying Duo ◽  
Lin Lei ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Muscle Weakness ◽  
Limb Girdle Muscular Dystrophy ◽  
Chinese Family ◽  
Distal Muscle

First report of a novel LMNA mutation in a Chinese family with limb–girdle muscular dystrophy

2014 ◽  
Vol 93 (3) ◽  
pp. 843-847 ◽  
Author(s):  
GUO HONG ◽  
ZHOU DAN ◽  
DAI LIMENG ◽  
CHI LUXIANG ◽  
YUN BAI
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Chinese Family ◽  
First Report ◽  
Lmna Mutation

Acute reversible muscle weakness in two infants with limb girdle muscular dystrophy (LGMD) 2I and identification of a novel missense mutation in the FKRP gene

2005 ◽  
Vol 36 (02) ◽  
Author(s):  
M von der Hagen ◽  
P Mitzscherling ◽  
K Köhler ◽  
A Kaindl ◽  
G Stoltenburg-Didinger ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Missense Mutation ◽  
Muscle Weakness ◽  
Limb Girdle Muscular Dystrophy

scholarly journals OP0079 LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2B - A RARE MYOSITIS MIMIC

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 43.1-43
Author(s):  
A. Merriman ◽  
S. Boyle
Keyword(s):  
Muscular Dystrophy ◽  
Muscle Weakness ◽  
Molecular Genetic ◽  
Inflammatory Myopathy ◽  
Molecular Genetic Analysis ◽  
Limb Girdle Muscular Dystrophy ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Clin Neurol ◽  
Genetics Services

Background:Proximal muscle weakness with associated raised creatine kinase (CK) commonly leads to referral to Rheumatology for the investigation of Idiopathic Inflammatory Myopathy (IIM). Some genetic myopathies can have a similar presentation with investigations that suggest inflammatory disease, leading to difficulty with accurate diagnosis (Amato & Brown, 2011; Harlan & Mammen, 2019).Objectives:To describe the case of a patient with Limb Girdle Muscular Dystrophy Type 2B (LGMD2B), whose initial presentation mimicked an inflammatory myopathy.Methods:Case report.Results:A 43-year-old patient was reviewed by Rheumatology due to proximal muscle weakness with a raised CK. Muscle biopsy was suggestive of inflammatory myopathy. Therefore, he was started on treatment with corticosteroids. Corticosteroid treatment resulted in no improvement in his weakness or CK. His diagnosis was reviewed, and he was referred to the Neurology and Genetics services. Following molecular genetic analysis, a diagnosis of Limb Girdle Muscular Dystrophy Type 2B was made.Conclusion:Muscle biopsies can suggest an inflammatory aetiology in some genetic myopathies (Amato & Brown, 2011; Harlan & Mammen, 2019). If a patient with suspected IIM presents with atypical features, or they do not respond as expected to treatment, then consider a genetic myopathy such as LGMD2B as a cause and involve the Neurology and Genetics services in the case.References:[1]Amato, A. A., & Brown, R. H., Jr. (2011). Dysferlinopathies. Handb Clin Neurol, 101, 111-118. https://doi.org/10.1016/b978-0-08-045031-5.00007-4[2]Harlan, M & Mammen A. L (2019). Myositis Mimics: The Differential Diagnosis of Myositis. In: R. Aggarwal and C. V. Oddis (Eds.) Managing Myositis (pp. 209-223). Springer, Cham.Disclosure of Interests:None declared

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 Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J

2015 ◽  
Vol 53 (8) ◽  
pp. 5097-5102 ◽  
Author(s):  
Wen Zheng ◽  
Han Chen ◽  
Xiong Deng ◽  
Lamei Yuan ◽  
Yan Yang ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Novel Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Chinese Family

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 Аutosomal recessive limb-girdle muscular dystrophy type 2A: two cases in Ukraine with different age of onset

2021 ◽  
Vol 26 (3) ◽  
pp. 212-218
Author(s):  
Yu.H. Antipkin ◽  
L.H. Kyrylova ◽  
O.O. Miroshnykov ◽  
O.O. Yuzva ◽  
V.V. Orzheshkovskyi ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Muscle Weakness ◽  
Blood Test ◽  
Autosomal Recessive ◽  
Age Of Onset ◽  
Adductor Muscle ◽  
Limb Girdle Muscular Dystrophy ◽  
Semitendinosus Muscle ◽  
Adductor Muscles ◽  
Capn3 Gene

The paper reports on two cases of young women from Ukraine with autosomal recessive limb-girdle muscular dystrophy type 2A with different age of symptoms onset and an absence of any family history presented with gradual onset of proximal muscle weakness in four limbs and thinning of shoulders, arms and thighs. Both patients had elevated creatine phosphokinase level and c.550delA mutations in CAPN3 gene. Sequence analysis and deletion/duplication testing of the 159 genes from skeletal muscles disease testing panel of 5-year-old girl identified deletion of exon 8 (heterozygous) and c.550delA (p.Thr184Argfs*36) mutation (heterozygous), were in CAPN3 gene. Magnetic Resonance Imaging of soft tissue of the proximal lower extremities was performed which showed signs of symmetrical atrophic changes in the major adductor muscle, the long and short adductor muscles, the semitendinosus muscle of the thigh, as a manifestations of autosomal recessive limb-girdle muscular dystrophy type 2A. Homozygous, pathogenic variant of the defect in the CAPN3 gene c.550del (p.Thr184Argfs * 36) was identified in a 25-year-old woman. Type 2A is the most common form of limb-girdle muscular dystrophy, accounting for about 30% of cases. The autosomal recessive limb-girdle muscular dystrophy type 2A is on caused by mutations in the CAPN3 gene, and it is characterized by selective atrophy and weakness of proximal limb and girdle muscles. The age of onset of muscle weakness is extremely variable; the most common being between 8 and 15 years, although it can range between 2 and 50 years. The diagnosis can be suspected by findings on a muscle biopsy or when a doctor experienced in muscular dystrophy examines you. A serum creatine kinase blood test may also show raised levels which indicate a problem in the muscles. The diagnosis has to be confirmed by means of identifying a mutation in the CAPN3 gene which is done on a deoxyribonucleic acid sample from a blood test. To date there are no specific treatments for limb-girdle muscular dystrophy, however careful management of the symptoms of the condition can improve a person’s quality of life. Joint contractures (tightening) can occur in limb-girdle muscular dystrophy and therefore regular physiotherapy is recommended. 

Sign in / Sign up

Export Citation Format

Share Document