Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita

Acta Neurologica Scandinavica

Volumn 121, Issue 2, 2010, Pages 131-135

  Kornblum, C ^a   Lutterbey, G G ^b   Czermin, B ^c   Reimann, J ^a   Von Kleist Retzow, J C ^d   Jurkat Rott, K ^e   Wattjes, M P ^b,f  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c Medizinisch Genetisches Zentrum   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

^e UNIVERSITY OF ULM   (Germany)

^f VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Chloride channel; CLCN1; Myotonia congenita; Myotonia congenita type Becker; Myotonic dystrophy; Whole body MRI

Indexed keywords

CHLORIDE CHANNEL; MUSCLE PROTEIN;

ADULT; CASE REPORT; CLCN 1 GENE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GASTROCNEMIUS MUSCLE; GENOTYPE; HUMAN; MALE; MISSENSE MUTATION; MUSCLE HYPERTROPHY; MYOTONIC DYSTROPHY; NONSENSE MUTATION; NOTE; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PEDIGREE; RECESSIVE GENE; RECESSIVE INHERITANCE; THOMSEN DISEASE; WHOLE BODY MRI;

ADIPOSE TISSUE; ADOLESCENT; ADULT; CHLORIDE CHANNELS; CONNECTIVE TISSUE; EDEMA; FEMALE; GENES, RECESSIVE; HUMANS; HYPERTROPHY; LEG; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; MYOTONIA CONGENITA; PEDIGREE;

EID: 74349112874     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/j.1600-0404.2009.01228.x     Document Type: Note

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