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corrélation génotype-phénotypeSynonyme(s)genotype-phenotype correlationVoir aussi |
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Baumbach-Reardon L ; Hunter JM ; Ahearn ME ; Pfautsch M | 29/07/2021Initial Posting: October 30, 2008; Last Update: July 29, 2021.Article
Handunnetthi L ; Knezevic B ; Kasela S ; Burnham KL ; Milani L ; Irani SR ; Fang H ; Knight JC | United States | 19/07/2021Article
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Weber F | 01/07/2021Initial Posting: July 18, 2003; Last Update: July 1, 2021. Clinical characteristics. Hyperkalemic periodic paralysis (hyperPP) is characterized by attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes[...]Article
Sivera R ; Lupo V ; Frasquet M ; Argente-Escrig H ; Alonso-Perez J ; Diaz-Manera J ; Querol L ; García-Romero MDM ; Pascual SI ; Garcia-Sobrino T ; Paradas C ; Vazquez-Costa JF ; Muelas N ; Millet E ; Vilchez JJ ; Espinos C ; Sevilla T | England | 30/06/2021Article
Uchôa Cavalcanti EB ; Santos SCL ; Martins CES ; de Carvalho DR ; Rizzo IMPO ; Freitas MCDNB ; da Silva Freitas D ; de Souza FS ; Junior AM ; do Nascimento OJM | United States | 30/06/2021Article
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Maggi L ; Bonanno S ; Altamura C ; Desaphy JF | 16/06/2021Article
Van Lent J ; Verstraelen P ; Asselbergh B ; Adriaenssens E ; Mateiu L ; Verbist C ; De Winter V ; Eggermont K ; van den Bosch L ; De Vos WH ; Timmerman V | England | 15/06/2021Article
Georganopoulou DG ; Moisiadis VG ; Malik FA ; Mohajer A ; Dashevsky TM ; Wuu ST ; Hu CK | 10/06/2021Article
Subréville M ; Bonello-Palot N ; Yahiaoui D ; Beloribi-Djefaflia S ; Fernandes S ; Stojkovic T ; Cassereau J ; Pereon Y ; Echaniz-Laguna A ; Violleau MH ; Soulages A ; Louis SL ; Masingue M ; Magot A ; Delmont E ; Sacconi S ; Adams D ; Labeyrie C ; Genestet S ; Noury JB ; Chanson JB ; Lévy N ; Juntas-Morales R ; Tard C ; Solé G ; Attarian S | England | 01/06/2021Article
Kumutpongpanich T ; Ogasawara M ; Ozaki A ; Ishiura H ; Tsuji S ; Minami N ; Hayashi S ; Noguchi S ; Iida A ; Nishino I ; Mori-Yoshimura M ; Oya Y ; Ono K ; Shimizu T ; Kawata A ; Shimohama S ; Toyooka K ; Endo K ; Toru S ; Sasaki O ; Isahaya K ; Takahashi MP ; Iwasa K ; Kira JI ; Yamamoto T ; Kawamoto M ; Hamano T ; Sugie K ; Eura N ; Shiota T ; Koide M ; Sekiya K ; Kishi H ; Hideyama T ; Kawai S ; Yanagimoto S ; Sato H ; Arahata H ; Murayama S ; Saito K ; Hara H ; Kanda T ; Yaguchi H ; Imai N ; Kawagashira Y ; Sanada M ; Obara K ; Kaido M ; Furuta M ; Kurashige T ; Hara W ; Kuzume D ; Yamamoto M ; Tsugawa J ; Kishida H ; Ishizuka N ; Morimoto K ; Tsuji Y ; Tsuneyama A ; Matsuno A ; Sasaki R ; Tamakoshi D ; Abe E ; Yamada S ; Uzawa A | 28/05/2021Article
Aoki M ; Takahashi T | 27/05/2021Initial Posting: February 5, 2004; Last Update: May 27, 2021. Clinical characteristics. Dysferlinopathy includes a spectrum of muscle disease characterized by two major phenotypes: Miyoshi muscular dystrophy (MMD) and limb-girdle muscular [...]Article
Luo S ; Rosen SM ; Li Q ; Agrawal PB | 27/05/2021Article
Leslie ND ; Valencia CA ; Strauss AW ; Zhang K | 13/05/2021Initial Posting: May 28, 2009; Last Revision: May 13, 2021. Clinical characteristics. Deficiency of very long-chain acyl-CoA dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial β-oxidation of long-chain fatty acids wit[...]Article
Initial Posting: June 11, 2015; Last Update: April 8, 2021 Clinical description. Riboflavin transporter deficiency (RTD), comprising RTD2 and RTD3 (caused by biallelic pathogenic variants in SLC52A2 and SLC52A3, respectively) is a rare neu[...]Article
Bird TD | 25/03/2021Initial Posting: September 17, 1999; Last Revision: March 25, 2021. Clinical characteristics. Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, an[...]Article
Foley AR ; Mohassel P ; Donkervoort S ; Bolduc V ; Bonnemann CG | 11/03/2021Initial Posting: June 25, 2004; Last Update: March 11, 2021. Clinical characteristics. Collagen VI-related dystrophies (COL6-RDs) represent a continuum of overlapping clinical phenotypes with Bethlem muscular dystrophy at the milder end, U[...]Article
Azzedine H ; Salih MA | 11/03/2021Initial Posting: March 31, 2008; Last Update: March 11, 2021. Clinical characteristics. SH3TC2-related hereditary motor and sensory neuropathy (SH3TC2-HMSN) is a demyelinating neuropathy characterized by severe spine deformities (scoliosis[...]Article
Initial Posting: August 3, 2005; Last Update: February 25, 2021. Clinical characteristics. Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, faci[...]Article
Velez-Bartolomei F ; Lee C ; Enns G | 07/01/2021Initial Posting: June 3, 2003; Last Update: January 7, 2021. Clinical characteristics. MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus (often the first symptom) followed by generalized[...]Article
Prior TW ; Leach ME ; Finanger E | 3/12/2020Initial Posting: February 24, 2000; Last Revision: December 3, 2020. Clinical characteristics. Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of t[...]Article
Trollet C ; Boulinguiez A ; Roth F ; Stojkovic T ; Butler-Browne G ; Evangelista T ; Lacau St Guily J ; Richard P | 22/10/2020Initial Posting: March 8, 2001; Last Update: October 22, 2020. Clinical characteristics. Oculopharyngeal muscular dystrophy (OPMD) is characterized by ptosis and dysphagia due to selective involvement of the muscles of the eyelids and phar[...]Article
McCray BA ; Schindler A ; Hoover-Fong JE ; Sumner CJ | 17/09/2020Initial Posting: May 15, 2014; Last Update: September 17, 2020. Clinical characteristics. The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are n[...]
