A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy

Neuromuscular Disorders

Volumn 11, Issue 2, 2001, Pages 139-145

  Ueyama, H ^a   Kumamoto, T ^a   Nagao, S I ^a   Masuda, T ^a   Horinouchi, H ^a   Fujimoto, S ^a   Tsuda, T ^a  

^a OITA UNIVERSITY   (Japan)

Author keywords

Autosomal recessive; Dysferlin; Limb girdle muscular dystrophy 2B; Missense mutation; Miyoshi myopathy

Indexed keywords

DYSFERLIN;

ADULT; AGED; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; GASTROCNEMIUS MUSCLE; GENE MUTATION; HAPLOTYPE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MISSENSE MUTATION; MIYOSHI MYOPATHY; MUSCLE ATROPHY; MUSCLE WEAKNESS; MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW;

AGED; ALLELES; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FEMALE; HAPLOTYPES; HUMANS; JAPAN; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0035094798     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(00)00168-1     Document Type: Review

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