Approach to the diagnosis of congenital myopathies

Neuromuscular Disorders

Volumn 24, Issue 2, 2014, Pages 97-116

  North, Kathryn N ^a,b   Wang, Ching H ^c   Clarke, Nigel ^b   Jungbluth, Heinz ^d,e,f   Vainzof, Mariz ^g   Dowling, James J ^h   Amburgey, Kimberly ^h   Quijano Roy, Susana ⁱ   Beggs, Alan H ^j   Sewry, Caroline ^k,l   Laing, Nigel G ^m   Bönnemann, Carsten G ⁿ   Aloysius, Annie ^o   Apkon, Susan ^p   Bellini, Jonathan ^p   Bertini, Enrico ^p   Biancalana, Valerie ^p   Birnkrant, David ^p   Bushby, Kate ^p   Connolly, Anne M ^p   Estournet Mathiaud, Brigitte ^p   Ferreiro, Ana ^p   Fitzgerald, Dominic ^p   Florence, Julaine M ^p   Richard Gee, P T ^p   Giannetti, Juliana G ^p   Glanzman, Allan ^p   Goebel, Hans ^p   Guillet, Marc ^p   Hofmeister, Brittany ^p   Labeit, Siegfried ^p   Laporte, Joceline ^p   Little, David ^p   Kemp, James ^p   Koumbourlis, Anastassios C ^p   Main, Marion ^p   Matthews, Dennis ^p   Morrison, Leslie A ^p   Munns, Craig ^p   Muntoni, Francesco ^p   Navarro, Carmen ^p   Panitch, Howard ^p   Pelin, Katarina ^p   Rose, Kristy ^p   Santiago, Maria Teresa ^p   Schroth, Mary K ^p   Sejersen, Thomas ^p   Simonds, Anita ^p   da Silva, Almeida Helga Cristina ^p   Rinsky, Lawrence ^p   Romero, Norma ^p   Schochet, Peter ^p   Schuler, Pamela M ^p   Shapiro, Frederic ^p   Storhaug, Kari ^p   Wallgren Pettersson, Carina ^p   Wallis, Colin ^p   Weiss, Hali ^p   Yuan, Nanci ^p   more..

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c Driscoll Childrens Hospital   (United States)

^d EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^e KING'S COLLEGE LONDON   (United Kingdom)

^f Centre for Clinical Neuroscience   (United Kingdom)

^g UNIVERSITY OF SÃO PAULO   (Brazil)

^h HOSPITAL FOR SICK CHILDREN   (Canada)

ⁱ RAYMOND POINCARÉ HOSPITAL   (France)

^j BOSTON CHILDREN S HOSPITAL   (United States)

^k Dubowitz Neuromuscular Centre   (United Kingdom)

^l ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

^m UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

ⁿ NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^o MRCSLT   (United Kingdom)

^p NONE

more..

Author keywords

Congenital myopathy; Diagnosis; Guidelines

Indexed keywords

CONGENITAL MYOPATHY; DIAGNOSIS; GUIDELINES;

BIOPSY; DIAGNOSIS, DIFFERENTIAL; GENOTYPE; HUMANS; MAGNETIC RESONANCE IMAGING; MUSCLES; MYOTONIA CONGENITA; PHENOTYPE;

EID: 84893786205     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.11.003     Document Type: Article

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