Multiple symmetric lipomatosis (Madelung's disease) caused by the MERRF (A8344G)' mutation: A report of two cases and review of the literature

Journal of Clinical Neuromuscular Disease

Volumn 5, Issue 1, 2003, Pages 1-7

  Tick Chong, P Siao ^a   Vucic, S ^a   Hedley Whyte, E T ^a   Dreyer, M ^a   Cros, D ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

MERRF mutation; Mitochondrial dysfunction; Multiple symmetric lipomatosis; Neuropathy

Indexed keywords

ALCOHOL; FAT; MITOCHONDRIAL PROTEIN;

ADULT; ALCOHOL CONSUMPTION; AUTONOMIC NEUROPATHY; BLOOD ANALYSIS; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DIARRHEA; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENDOCRINE DISEASE; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; HUMAN TISSUE; IMPOTENCE; LIPID STORAGE; LIPOMA; LIPOMATOSIS; MALE; MERRF SYNDROME; METABOLIC DISORDER; MUSCLE WEAKNESS; NERVE BIOPSY; PATHOGENESIS; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SENSORY NERVE CONDUCTION; SKULL; THORACIC CAVITY;

EID: 1642525911     PISSN: 15220443     EISSN: None     Source Type: Journal    
DOI: 10.1097/00131402-200309000-00001     Document Type: Review

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