Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype

Neuromuscular Disorders

Volumn 23, Issue 7, 2013, Pages 549-556

  Quinlivan, Ros ^a,b   Mitsuahashi, Satomi ^c   Sewry, Caroline ^a,d   Cirak, Sebahattin ^a   Aoyama, Chieko ^e   Mooore, David ^f   Abbs, Stephen ^f   Robb, Stephanie ^a   Newton, Tina ^f   Moss, Celia ^h   Birchall, Daniel ^g,i   Sugimoto, Hiroyuki ^e   Bushby, Kate ⁱ   Guglieri, Michela ⁱ   Muntoni, Francesco ^a   Nishino, Ichizo ^c   Straub, Volker ⁱ  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^d ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

^e DOKKYO MEDICAL UNIVERSITY   (Japan)

^f GUY S HOSPITAL   (United Kingdom)

^g UNIVERSITY HOSPITAL OF NORTH STAFFORDSHIRE   (United Kingdom)

^h BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

ⁱ NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Cardiomyopathy; Choline kinase beta; Ichthyosis; Mitochondria; Muscular dystrophy

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CHOLINE; CHOLINE KINASE; DESMIN; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DYSTROPHIN; PHOSPHORYLCHOLINE; PROSTAGLANDIN SYNTHASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); TAU PROTEIN;

ADULT; ARTICLE; BLOOD SMEAR; BRAIN LEVEL; BRITISH; CARDIOMYOPATHY; CASE REPORT; CELLULAR DISTRIBUTION; CHILD; CHOLINE KINASE BETA GENE; CLINICAL EVALUATION; ETHNIC GROUP; FEMALE; FRAMESHIFT MUTATION; GASTROINTESTINAL INFECTION; GENE ACTIVITY; GENE MUTATION; GENETIC ASSOCIATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MITOCHONDRIAL VOLUME; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NEUROIMAGING; NEUROPATHOLOGY; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE;

BRAIN; CHILD, PRESCHOOL; CHOLINE KINASE; CHROMOSOMES, HUMAN, PAIR 22; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MITOCHONDRIA; MUSCULAR DYSTROPHIES; MUTATION; PHENOTYPE; YOUNG ADULT;

EID: 84878977223     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.04.002     Document Type: Article

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