A case of LGMD2A (Calpainopathy) clinically presenting as Miyoshi distal myopathy

Clinical Neurology

Volumn 48, Issue 9, 2008, Pages 651-655

  Shirafuji, Toshihiko ^a   Otsuka, Yoshihisa ^a   Kobessho, Hiroshi ^a   Minami, Narihiro ^b   Hayashi, Yukiko ^b   Nishino, Ichizo ^b   Kanda, Fumio ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

Author keywords

Calpain 3 gene mutation; LGMD2A gene analysis; Miyoshi distal myopathy

Indexed keywords

CALPAIN 3; CREATINE KINASE; DYSFERLIN; CALPAIN; CAPN3 PROTEIN, HUMAN; MUSCLE PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BICEPS BRACHII MUSCLE; CASE REPORT; CELL VACUOLE; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; EXON; FEMALE; FIBER; GASTROCNEMIUS MUSCLE; GENE MUTATION; GENETIC ANALYSIS; GLUTEUS MAXIMUS MUSCLE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; INTRON; LIMB GIRDLE MUSCULAR DYSTROPHY; MIYOSHI MYOPATHY; MUSCLE BIOPSY; MUSCLE NECROSIS; MUSCLE WEAKNESS; WESTERN BLOTTING; BLOOD; COMPUTER ASSISTED TOMOGRAPHY; DIFFERENTIAL DIAGNOSIS; DISTAL MYOPATHY; GENETICS; MUTATION; PATHOLOGY; RADIOGRAPHY; SKELETAL MUSCLE;

CALPAIN; CREATINE KINASE; DIAGNOSIS, DIFFERENTIAL; DISTAL MYOPATHIES; FEMALE; HUMANS; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; TOMOGRAPHY, X-RAY COMPUTED; YOUNG ADULT;

EID: 58949093450     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: 10.5692/clinicalneurol.48.651     Document Type: Article

References (14)

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