title: Mitochondrial mutation in a child with distal arthrogryposis.
abstract: A 15-year-old girl presented with stroke and was found to have a mitochondrial mutation MELAS T3271C. As an infant, she had required casting and surgery for clubbed feet as well as physical therapy for camptodactyly and adducted thumbs. Despite some residual deformities, psychomotor development was normal, but she was extremely small for her age with height, weight, and head circumference below the third centile. A younger brother had similar distal arthrogryposis, but normal height and weight and no history of stroke though he had been diagnosed with attention deficit. The parents and another brother were clinically normal. While the observation of MELAS in a child with distal arthrogryposis could be co-incidental, it raises concern about the possible role of mitochondrial myopathy or neuropathy in causation of distal arthrogryposis.
authors.affiliation: Marshfield Clinic, Marshfield, Wisconsin 54449, USA. mcpherson.elizabeth@marshfieldclinic.org
authors.forename: Elizabeth
authors.initials: E
authors.lastname: McPherson
authors.forename: Carrie
authors.initials: C
authors.lastname: Zabel
mesh_terms: D000293:Adolescent; D001176:Arthrogryposis / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D017241:MELAS Syndrome / Q000150:complications / Q000235:genetics*; D017354:Point Mutation
chemical_list: D004272:DNA, Mitochondrial