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corrélation génotype-phénotypeSynonyme(s)genotype-phenotype correlationVoir aussi |
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Saito K | 03/07/2019Initial Posting: January 26, 2006; Last Update: July 3, 2019. Clinical characteristics. Fukuyama congenital muscular dystrophy (FCMD) is characterized by hypotonia, symmetric generalized muscle weakness, and CNS migration disturbances that[...]Article
Lerat J, Auteur ; Magdelaine C ; Lunati A ; Dzugan H ; Dejoie C ; Rego M ; Beze Beyrie P ; Bieth E ; Calvas P ; Cintas P ; Delaubrier A ; Demurger F ; Gilbert-Dussardier B ; Goizet C ; Journel H ; Laffargue F ; Magy L ; Taithe F ; Toutain A ; Urtizberea JA ; Sturtz F ; Lia AS | Netherlands | 06/2019Article
Wieser T | 03/01/2019Initial Posting: August 27, 2004; Last Revision: January 3, 2019. Clinical characteristics. Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal n[...]Article
El-Hattab AW ; Almannai M ; Scaglia F | 29/11/2018Initial Posting: February 27, 2001; Last Update: November 29, 2018. Clinical characteristics. MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with protean manifestations. The vast [...]Article
Herbert M ; Goldstein JL ; Rehder C ; Austin S ; Kishnani PS ; Bali DS | 01/11/2018Initial Posting: May 31, 2011; Last Update: November 1, 2018. Clinical characteristics. Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, whi[...]Article
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Dowling JJ ; Lawlor MW ; Das S | 23/08/2018Initial Posting: February 25, 2002; Last Update: August 23, 2018. Clinical characteristics. X-linked myotubular myopathy (X-MTM), also known as myotubular myopathy (MTM), is characterized by muscle weakness that ranges from severe to mild. [...]Article
Wolfe L ; Jethva R ; Oglesbee D ; Vockley J | 09/08/2018Initial Posting: September 22, 2011; Last Update: August 9, 2018. Clinical characteristics. Most infants with short-chain acyl-CoA dehydrogenase deficiency (SCADD) identified through newborn screening programs have remained well, and asympto[...]Article
Weber F ; Lehmann-Horn F | 26/07/2018Initial Posting: April 30, 2002; Last Update: July 26, 2018. Clinical characteristics. Hypokalemic periodic paralysis (hypoPP) is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia (ser[...]Article
Wang J ; El-Hattab AW | 26/07/2018Initial Posting: December 6, 2012; Last Update: July 26, 2018. Clinical characteristics. TK2-related mitochondrial DNA (mtDNA) maintenance defect is a phenotypic continuum that ranges from severe to mild. To date, approximately 107 individua[...]Article
Veerapandiyan A ; Statland JM ; Tawil R | 07/06/2018Initial Posting: November 22, 2004; Last Update: June 7, 2018. Clinical characteristics. Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and p[...]Article
Owen D, Auteur ; Topf A ; Preethish Kumar V ; Lorenzoni PJ ; Vroling B ; Scola RH ; Dias-Tosta E ; Geraldo A ; Polavarapu K ; Nashi S ; Cox D ; Evangelista A ; Dawson J ; Thompson R ; Senderek J ; Laurie S ; Beltran S ; Gut M ; Gut I ; Nalini A ; Lochmuller H | 28/04/2018Article
Tome S, Auteur ; Dandelot E ; Dogan C ; Bertrand A ; Genevieve D ; Pereon Y ; Simon M ; Bonnefont JP ; Bassez G ; Gourdon G | 17/04/2018Article
Ivanov I, Auteur ; Atkinson D ; Litvinenko I ; Angelova L ; Andonova S ; Mumdjiev H ; Pacheva I ; Panova M ; Yordanova R ; Belovejdov V ; Petrova A ; Bosheva M ; Shmilev T ; Savov A ; Jordanova A | 03/04/2018Article
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DA Dyment ; Bennett SAL ; Medin JA ; Levade T | 29/03/2018Initial Posting: March 29, 2018. Clinical characteristics. The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Classic FD is characterized b[...]Article
Mori Yoshimura M, Auteur ; Mitsuhashi S ; Nakamura H ; Komaki H ; Goto K ; Yonemoto N ; Takeuchi F ; Hayashi YK ; Murata M ; Takahashi Y ; Nishino I ; Takeda S ; Kimura E | 26/03/2018Article
Traverso M, Auteur ; Assereto S ; Baratto S ; Iacomino M ; Pedemonte M ; Diana MC ; Ferretti M ; Broda P ; Minetti C ; Gazzerro E ; Madia F ; Bruno C ; Zara F ; Fiorillo C | 19/03/2018Article
Saghira C, Auteur ; Bis DM ; Stanek D ; Strickland A ; Herrmann DN ; Reilly MM ; Scherer SS ; Shy ME ; Zuchner S | 22/02/2018Article
Al-Obeidi E, Auteur ; Al-Tahan S ; Surampalli A ; Goyal N ; Wang A ; Hermann A ; Omizo M ; Smith C ; Mozaffar T ; Kimonis V | 2018Article