A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres

Neuromuscular Disorders

Volumn 25, Issue 4, 2015, Pages 345-348

  Casar Borota, Olivera ^a,b   Jacobsson, Johan ^c   Libelius, Rolf ^c   Oldfors, Carola Hedberg ^d   Malfatti, Edoardo ^e   Romero, Norma Beatriz ^e   Oldfors, Anders ^d  

^a UPPSALA UNIVERSITY   (Sweden)

^b UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^c UMEÅ UNIVERSITY   (Sweden)

^d UNIVERSITY OF GOTHENBURG   (Sweden)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Centronuclear myopathy; Dynamin 2; Necklace fibre

Indexed keywords

CREATINE KINASE; DYNAMIN II; DNM2 PROTEIN, HUMAN; DYNAMIN; MYOTUBULARIN; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE;

ADULT; ARM PAIN; ARTICLE; BRACHIAL PLEXUS NEUROPATHY; CASE REPORT; CENTRONUCLEAR MYOPATHY; CREATINE KINASE BLOOD LEVEL; DNM2 GENE; ELECTROMYOGRAPHY; FEMALE; GENE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; LATE ONSET CENTRONUCLEAR MYOPATHY; MISSENSE MUTATION; MOTOR NERVE CONDUCTION; MTM1 GENE; MUSCLE ATROPHY; MUSCLE BIOPSY; NEUROLOGIC EXAMINATION; PARESTHESIA; PRIORITY JOURNAL; SANGER SEQUENCING; SENSORY NERVE CONDUCTION; SEQUENCE ANALYSIS; SHOULDER PAIN; FOLLOW UP; GENETICS; MYOPATHY; ONSET AGE; PATHOLOGY; PATHOPHYSIOLOGY; SKELETAL MUSCLE;

ADULT; AGE OF ONSET; DYNAMINS; FEMALE; FOLLOW-UP STUDIES; HUMANS; MUSCLE, SKELETAL; MUTATION, MISSENSE; MYOPATHIES, STRUCTURAL, CONGENITAL; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR;

EID: 84925258905     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2015.01.001     Document Type: Article

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