Atypical amyoplasia congenita in an infant with Leigh syndrome: A mitochondrial cause of severe contractures?

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 9, 2012, Pages 2353-2357

  Wilnai, Yael ^a   Seaver, Laurie H ^b,c   Enns, Gregory M ^a  

^a LUCILE PACKARD CHILDREN S HOSPITAL   (United States)

^b Kapiolani Medical Specialists   (United States)

^c UNIVERSITY OF HAWAII   (United States)

Author keywords

Amyoplasia congenita; Arthrogryposis; Cytochrome c oxidase deficiency; Dupuytren's contractures; Leigh syndrome; SURF 1

Indexed keywords

LACTIC ACID;

AMYOPLASIA; ARTHROGRYPOSIS; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CHILD; CHOREOATHETOSIS; DISEASE SEVERITY; GENE; HETEROZYGOSITY; HUMAN; JOINT CONTRACTURE; KYPHOSIS; LACTATE BLOOD LEVEL; LACTIC ACID CEREBROSPINAL FLUID LEVEL; LEG DISEASE; LEIGH DISEASE; MALE; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEUROIMAGING; NEUROLOGIC DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; SURF 1 GENE; VIRAL GASTROENTERITIS;

ARTHROGRYPOSIS; HUMANS; INFANT; MALE; MITOCHONDRIA;

EID: 84865534691     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35533     Document Type: Article

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