N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome

Journal of the Neurological Sciences

Volumn 296, Issue 1-2, 2010, Pages 107-109

  Rakocevic Stojanovic, V ^a   Milic Rasic V ^a   Peric S ^a   Baets, J ^b,c,d   Timmerman, V ^b,c   Dierick, I ^b,c   Pavlovic S ^a   De Jonghe, P ^b,c,d  

^a UNIVERSITY OF BELGRADE   (Serbia)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

BSCL2 gene; Distal hereditary motor neuropathy type V (dHMN V); Silver syndrome

Indexed keywords

ACHILLES REFLEX; ADULT; ARTICLE; BSCL2 GENE; CASE REPORT; DENERVATION; DNA SEQUENCE; ELECTROMYOGRAM; FEMALE; GENE; GENE MUTATION; HAND MUSCLE; HUMAN; HYPERREFLEXIA; HYPOREFLEXIA; LEG MUSCLE; MALE; MISSENSE MUTATION; MUSCLE ACTION POTENTIAL; MUSCLE ATROPHY; MUSCLE DENERVATION; MUSCLE WEAKNESS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SENSORY NERVE CONDUCTION; SERBIA; SILVER RUSSELL SYNDROME;

ACTION POTENTIALS; ADULT; DNA; ELECTRODIAGNOSIS; ELECTROMYOGRAPHY; FEMALE; GTP-BINDING PROTEIN GAMMA SUBUNITS; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; MALE; MIDDLE AGED; MOTOR NEURONS; MUSCLE, SKELETAL; MUTATION; MUTATION, MISSENSE; NEURAL CONDUCTION; PEDIGREE; SENSORY RECEPTOR CELLS;

EID: 77956883647     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2010.06.015     Document Type: Article

References (12)

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