Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb–Girdle Muscular Dystrophy Type 2A

2016 ◽  
Vol 18 (2) ◽  
pp. 89-91
Author(s):  
Talal M. Al-Harbi ◽  
Sameeh O. Abdulmanaʼ ◽  
Walid Dridi
Keyword(s):  
Muscular Dystrophy ◽  
Missense Mutation ◽  
Saudi Arabian ◽  
Limb Girdle Muscular Dystrophy ◽  
Homozygous Missense Mutation ◽  
Capn3 Gene

P.P.6 03 Incidence of 550delA in the CAPN3 gene in German patients with limb-girdle muscular dystrophy and hyperCKemia

2006 ◽  
Vol 16 (9-10) ◽  
pp. 694-695 ◽  
Author(s):  
F. Hanisch ◽  
D. Grimm ◽  
L. Xue ◽  
C. Müller-Reible ◽  
S. Zierz ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Capn3 Gene

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A

2014 ◽  
Vol 50 (3) ◽  
pp. 448-453 ◽  
Author(s):  
Oihane Jaka ◽  
Margarita Azpitarte ◽  
Coro Paisán-Ruiz ◽  
Miren Zulaika ◽  
Leire Casas-Fraile ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Gene Deletion ◽  
Limb Girdle Muscular Dystrophy ◽  
Capn3 Gene

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 Identification of a novel SGCA missense mutation in a case of limb‐girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins

2019 ◽  
Vol 39 (3) ◽  
pp. 207-211
Author(s):  
Yanpeng Lu ◽  
Xueqin Song ◽  
Guang Ji ◽  
Hongran Wu ◽  
Duan Li ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Missense Mutation ◽  
Limb Girdle Muscular Dystrophy

scholarly journals Limb-girdle muscular dystrophy type 2A in Brazilian children

2015 ◽  
Vol 73 (12) ◽  
pp. 993-997 ◽  
Author(s):  
Marco Antônio Veloso de Albuquerque ◽  
Osório Abath Neto ◽  
Francisco Marcos Alencar da Silva ◽  
Edmar Zanoteli ◽  
Umbertina Conti Reed
Keyword(s):  
Muscular Dystrophy ◽  
Disease Onset ◽  
Limb Girdle Muscular Dystrophy ◽  
Lower Limbs ◽  
Clinical Aspects ◽  
Mri Findings ◽  
Muscle Mri ◽  
Scapular Winging ◽  
Muscle Biopsies ◽  
Capn3 Gene

ABSTRACT Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene. Objective To present clinical and histological findings in six children with a molecular diagnosis of LGMD2A and additionally the MRI findings in two of them. Method We retrospectively assessed medical records of 6 patients with mutation on CAPN3 gene. Results All patients were female (three to 12 years). The mean of age of disease onset was 9 years. All of them showed progressive weakness with predominance in lower limbs. Other findings were scapular winging, joint contractures and calf hypertrophy. One female had a more severe phenotype than her dizygotic twin sister that was confirmed by muscle MRI. Muscle biopsies showed a dystrophic pattern in all patients. Conclusion In this cohort of children with LGMD2A, the clinical aspects were similar to adults with the same disorder.

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