Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Acta Neuropathologica

Volumn 133, Issue 4, 2017, Pages 517-533

  Schartner, Vanessa ^a,b,c,d   Romero, Norma B ^e,f   Donkervoort, Sandra ^g   Treves, Susan ^h   Munot, Pinki ⁱ   Pierson, Tyler Mark ^j   Dabaj, Ivana ^k,l,m   Malfatti, Edoardo ^e,f   Zaharieva, Irina T ⁱ   Zorzato, Francesco ^h   Abath Neto, Osorio ^a,g   Brochier, Guy ^e,f   Lornage, Xavière ^a,b,c,d   Eymard, Bruno ⁿ   Taratuto, Ana Lía ^o   Böhm, Johann ^a,b,c,d   Gonorazky, Hernan ^p   Ramos Platt, Leigh ^q   Feng, Lucy ⁱ   Phadke, Rahul ⁱ   Bharucha Goebel, Diana X ^g,r   Sumner, Charlotte Jane ^s   Bui, Mai Thao ^e,f   Lacene, Emmanuelle ^e,f   Beuvin, Maud ^e,f   Labasse, Clémence ^e,f   Dondaine, Nicolas ^w   Schneider, Raphael ^a,b,c,d,t   Thompson, Julie ^t   Boland, Anne ^u   Deleuze, Jean François ^u   Matthews, Emma ⁱ   Pakleza, Aleksandra Nadaj ^v   Sewry, Caroline A ⁱ   Biancalana, Valérie ^a,b,c,d,w   Quijano Roy, Susana ^k,l,m,x   Muntoni, Francesco ⁱ   Fardeau, Michel ^e,f   Bönnemann, Carsten G ^g   Laporte, Jocelyn ^a,b,c,d   more..

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

^b INSERM   (France)

^c CNRS   (France)

^d UNIVERSITÉ DE STRASBOURG   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^g NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^h UNIVERSITY HOSPITAL BASEL   (Switzerland)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^j CEDARS SINAI MEDICAL CENTER   (United States)

^k RAYMOND POINCARÉ HOSPITAL   (France)

^l Centre de Référence des Maladies Neuromusculaires Garches Mondor Necker Hendaye   (France)

^m Réseau National Français de la Filière Neuromusculaire FILNEMUS   (France)

ⁿ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^o HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^p HOSPITAL FOR SICK CHILDREN   (Canada)

^q UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^r CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^s JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^t Faculté de Médecine   (France)

^u DIF   (France)

^v ANGERS UNIVERSITY HOSPITAL   (France)

^w HÔPITAL CIVIL   (France)

^x LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

more..

Author keywords

Centronuclear myopathy; Congenital myopathy; Core myopathy; DHPR; Excitation contraction coupling; Myotubular myopathy; Triad

Indexed keywords

1,4 DIHYDROPYRIDINE RECEPTOR; CALCIUM; CACNA1S PROTEIN, HUMAN; CALCIUM CHANNEL;

ADOLESCENT; ADULT; ARTICLE; CACNA1S GENE; CALCIUM TRANSPORT; CHILD; CLINICAL ARTICLE; CONGENITAL DISORDER; DEPOLARIZATION; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MYOPATHY; MYOTUBE; OPHTHALMOPLEGIA; PHENOTYPE; PRIORITY JOURNAL; SKELETAL MUSCLE; WEAKNESS; WHOLE EXOME SEQUENCING; CELL CULTURE; COHORT ANALYSIS; DIAGNOSTIC IMAGING; FAMILY; GENETICS; METABOLISM; MIDDLE AGED; MUSCLE CELL; MUTATION; PATHOLOGY; SEQUENCE HOMOLOGY; THOMSEN DISEASE; YOUNG ADULT;

ADOLESCENT; ADULT; CALCIUM; CALCIUM CHANNELS; CELLS, CULTURED; CHILD; COHORT STUDIES; FAMILY; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE CELLS; MUSCLE, SKELETAL; MUTATION; MYOTONIA CONGENITA; PHENOTYPE; SEQUENCE HOMOLOGY, AMINO ACID; YOUNG ADULT;

EID: 85007190235     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-016-1656-8     Document Type: Article

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