Novel CHKB mutation expands the megaconial muscular dystrophy phenotype

Muscle and Nerve

Volumn 51, Issue 1, 2015, Pages 140-143

  Cabrera Serrano, Macarena ^a,b   Junckerstorff, Reimar C ^a,c   Atkinson, Vanessa ^d   Sivadorai, Padma ^d   Allcock, Richard J ^a,c   Lamont, Phillipa ^c   Laing, Nigel G ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^c ROYAL PERTH HOSPITAL   (Australia)

^d PATHWEST LABORATORY MEDICINE   (Australia)

Author keywords

CHKB; Congenital muscular dystrophy; Megaconial myopathy; Mitochondrial myopathy; Utrophin upregulation

Indexed keywords

ADENOSINE TRIPHOSPHATE; CHKB PROTEIN, HUMAN; CHOLINE KINASE; CYTOCHROME C OXIDASE; MYOSIN; UTROPHIN;

CASE REPORT; CHILD; FEMALE; GENETICS; HUMAN; METABOLISM; MITOCHONDRIAL MYOPATHY; MUTATION; PATHOLOGY; SKELETAL MUSCLE;

ADENOSINE TRIPHOSPHATE; CHILD; CHOLINE KINASE; ELECTRON TRANSPORT COMPLEX IV; FEMALE; HUMANS; MITOCHONDRIAL MYOPATHIES; MUSCLE, SKELETAL; MUTATION; MYOSINS; UTROPHIN;

EID: 84916939774     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.24446     Document Type: Article

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