Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation

Journal of Neurology Neurosurgery and Psychiatry

Volumn 64, Issue 4, 1998, Pages 543-547

  Mastaglia, F L ^a   Harker, N ^b   Phillips, B A ^b   Day, T J ^b   Hankey, G J ^b   Laing, N G ^b   Fabian, V ^b   Kakulas, B A ^b  

^a PATHWEST LABORATORY MEDICINE   (Australia)

^b NONE

Author keywords

CLCN1 mutation; Leukoencephalopathy; Proximal myotonic myopathy

Indexed keywords

CHLORIDE CHANNEL;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; DOMINANT INHERITANCE; ELECTROMYOGRAPHY; EXON; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC LINKAGE; GREECE; HUMAN; LEUKOENCEPHALOPATHY; MALE; MOLECULAR GENETICS; MUSCLE WEAKNESS; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

EID: 0031978737     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.64.4.543     Document Type: Article

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