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A unique case of limb‐girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene
Author(s) -
Matsubara E.,
Tsuchiya A.,
Minami N.,
Nishino I.,
Pappolla M. A.,
Shoji M.,
Abe K.
Publication year - 2007
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2007.01808.x
Subject(s) - muscular dystrophy , limb girdle muscular dystrophy , medicine , biceps , muscle biopsy , muscle contracture , atrophy , spinal muscular atrophy , compound heterozygosity , anatomy , creatine kinase , wasting , dysferlin , pathology , gene , mutation , biopsy , genetics , biology , disease
A unique sib pair afflicted by limb girdle muscular dystrophy type 2A (LGMD2A) is described showing a slowly progressive autosomal recessive type of muscular dystrophy with onset in the third and fourth decades. The patients had early asymmetric muscle involvement characterized by prominent biceps brachii atrophy with sparing of the knee extensors. Additional findings included elevation of serum creatine kinase level, myopathic EMG changes and dystrophic type of pathology on muscle biopsy. Asymmetrical wasting of muscles in the extremities exhibited uniform and highly selective CT imaging patterns. RNA and DNA analyses confirmed novel compound heterozygous mutations (R147X/L212F) in the human CAPN3 gene.