Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

Neuromuscular Disorders

Volumn 20, Issue 4, 2010, Pages 229-237

  Susman, Rachel D ^a,b   Quijano Roy, Susana ^c,e   Yang, Nan ^a,b   Webster, Richard ^a,b   Clarke, Nigel F ^a,b   Dowling, Jim ^d   Kennerson, Marina ^e   Nicholson, Garth ^e   Biancalana, Valerie ^f   Ilkovski, Biljana ^a   Flanigan, Kevin M ^g   Arbuckle, Susan ^a   Malladi, Chandra ^h   Robinson, Phillip ^h   Vucic, Steven ⁱ   Mayer, Michèle ^j   Romero, Norma B ^k,n   Urtizberea, Jon Andoni ^l   García Bragado, Federico ^m   Guicheney, Pascale ⁿ   Bitoun, Marc ⁿ   Carlier, Robert Yves ^c,k   North, Kathryn N ^a,b   more..

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b University of Sydney   (Australia)

^c RAYMOND POINCARÉ HOSPITAL   (France)

^d UNIVERSITY OF MICHIGAN   (United States)

^e ANZAC RESEARCH INSTITUTE   (Australia)

^f INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^g UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^h CHILDREN'S MEDICAL RESEARCH INSTITUTE   (Australia)

ⁱ WESTMEAD HOSPITAL   (Australia)

^j ARMAND TROUSSEAU HOSPITAL   (France)

^k PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^l AP HP Hopital Marin   (France)

^m Universidad Pública de Navarra   (Spain)

ⁿ Sorbonne Université   (France)

more..

Author keywords

Centronuclear myopathy; DNM2; Dynamin; Muscular dystrophy; Whole body MRI

Indexed keywords

CREATINE KINASE; DYNAMIN II;

ACHILLES TENDON; ADOLESCENT; ADULT; ARM MUSCLE; ARTICLE; CENTRONUCLEAR MYOPATHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; EXTENSOR MUSCLE; EXTERNAL OPHTHALMOPLEGIA; FACE WEAKNESS; FAMILY; FEMALE; FLEXOR MUSCLE; FOREARM; HUMAN; LIMB WEAKNESS; MALE; MASTICATORY MUSCLE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NECK MUSCLE; NERVE CONDUCTION; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; TRUNK; WHOLE BODY MRI;

ADOLESCENT; ADULT; BIOPSY; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DYNAMIN II; FEMALE; FOOT DEFORMITIES; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION, MISSENSE; MYOPATHIES, STRUCTURAL, CONGENITAL; NEURAL CONDUCTION; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY;

EID: 77950919875     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.02.016     Document Type: Article

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