DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy

Neuromuscular Disorders

Volumn 23, Issue 1, 2013, Pages 36-42

  Mahjneh, Ibrahim ^a,b   Lochmüller, Hanns ^c   Muntoni, Francesco ^d   Abicht, Angela ^e  

^a UNIVERSITY OF OULU   (Finland)

^b Pietarsaari Hospital   (Finland)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

Congenital muscular dystrophy; Congenital myasthenic syndromes; Limb girdle myasthenic syndrome

Indexed keywords

SALBUTAMOL;

ACUTE RESPIRATORY FAILURE; ADULT; ARTICLE; ARTIFICIAL VENTILATION; CHROMOSOME 4P; CLINICAL ARTICLE; CONGENITAL MYASTHENIC SYNDROME; DOK7 GENE; FAMILY; FEMALE; GENE; GENE MUTATION; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE CONTRACTURE; MUSCLE FUNCTION; MUSCLE HYPOTONIA; MUSCLE STRENGTH; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; PALESTINE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCOLIOSIS; THORAX PAIN; TREMOR;

ADRENERGIC BETA-2 RECEPTOR AGONISTS; ADULT; ALBUTEROL; DIAGNOSIS, DIFFERENTIAL; EPHEDRINE; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE STRENGTH; MUSCLE WEAKNESS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PAKISTAN; TREATMENT OUTCOME;

EID: 84872378122     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.06.355     Document Type: Article

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