Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation.
The authors describe a family with autosomal dominant rippling muscle disease (RMD) and prominent early-onset toe walking. Molecular analysis revealed a novel heterozygous G > A transition at nucleotide position 136 in exon 2 of the caveolin-3 gene (CAV3). The role of Achilles tendon lengthening in more severe forms of RMD is discussed.
Madrid
Ricardo E
RE
New York State Institute for Basic Research in Developmental Disabilities, George A. Jervis Clinic, Staten Island, NY, USA. ricardo.madrid@omr.state.ny.us
Kubisch
Christian
C
Hays
Arthur P
AP
D000125:Achilles Tendon / Q000473:pathology / Q000503:physiopathology; D000328:Adult; D021941:Caveolae / Q000473:pathology / Q000648:ultrastructure; D051244:Caveolin 3 / Q000235:genetics* / Q000378:metabolism; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D020233:Gait Disorders, Neurologic / Q000235:genetics* / Q000503:physiopathology; D005799:Genes, Dominant / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D046529:Microscopy, Electron, Transmission; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics
C417736:CAV3 protein, human; D051244:Caveolin 3