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Clinical and pathological features in 15 Chinese patients with calpainopathy
Author(s) -
Luo SuShan,
Xi JianYing,
Lu JiaHong,
Zhao ChongBo,
Zhu WenHua,
Lin Jie,
Wang Yin,
Ren HuiMin,
Yin Bo,
Andoni Urtizberea J.
Publication year - 2011
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21908
Subject(s) - pathological , medicine , atrophy , pathology , muscle contracture , myopathy , muscle atrophy , muscle biopsy , muscle weakness , immunohistochemistry , weakness , calpain , dysferlin , biopsy , skeletal muscle , anatomy , biology , biochemistry , enzyme
Background: Calpainopathy is comprised of a group of myopathies caused by deficiency in calcium‐activated, neutral protease (calpain‐3). In this study we identify calpainopathy in a cohort of Chinese patients with unclassified myopathy and analyze its clinical and pathological features. Methods: Sixty‐six muscle biopsies were selected for combined Western blotting of dysferlin and calpain‐3 after immunohistochemical staining. Clinical and pathological parameters of 15 confirmed calpainopathy cases were determined. Results: The diagnosis of calpainopathy in 15 Chinese patients was confirmed by Western blot analysis. Fourteen subjects had progressive proximal muscle weakness; 1 presented with bilateral distal muscle atrophy of the lower extremities. Scapular winging was observed in 12 patients (80%), and joint contractures were found in 10 others (66.7%). Histopathological studies showed a high prevalence of lobulated fibers (66.7%). Conclusions: Chinese patients with calpainopathy share some common clinical and pathological features with the reported characteristics of non‐Chinese patients. Muscle Nerve, 2011