WebIt is associated with Charcot–Marie–Tooth disease 1F and 2E. [5] Interactions [ edit] Neurofilament light polypeptide has been shown to interact with: MAP2, [16] Protein kinase N1, [17] and TSC1. [18] References [ edit] ^ a b c GRCh38: Ensembl release 89: ENSG00000277586 - Ensembl, May 2024 WebX-linked Charcot-Marie-Tooth disease is a group of genetic disorders and a type of Charcot-Marie-Tooth disease characterized by sensory loss associated with muscle weakness and atrophy alongside many other symptoms. [1] Signs and symptoms [ edit]
シャルコー・マリー・トゥース病 - Wikipedia
WebMarie was the first general secretary of the Société Française de Neurologie, and with Édouard Brissaud (1852–1909), he was co-founder of the journal Revue neurologique. His name is associated with the eponymous Charcot–Marie–Tooth disease, being named along with Jean-Martin Charcot and Howard Henry Tooth (1856–1925). WebDer Morbus Charcot-Marie-Tooth (CMT) ist eine erbliche Erkrankung, bei der vor allem periphere Nerven und bestimmte Rückenmarksabschnitte befallen sind. Er wurde nach … crochet pattern for curtain tiebacks
Charcot-Marie-Tooth disease: MedlinePlus Genetics
Web알려진 인간의 장애로는 1A형 샤르코-마리-투스 병(Charcot-Marie-Tooth disease type 1A, 17번 염색체에 있는, 말초 미엘린 단백질 22를 암호화하는 유전자의 중복)이 있다. 전좌: 한 염색체의 일부가 다른 염색체로 옮겨지는 현상이다. 두가지의 주요 유형이 있다: WebCharcot-Marie-Tooth Disease. Chiari Malformations. Chorea. Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) Coffin-Lowry Syndrome. Colpocephaly. Coma. ... Spinocerebellar Ataxias including Machado-Joseph Disease. Stiff-Person Syndrome. Striatonigral Degeneration. Stroke. Sturge-Weber Syndrome. Subacute Sclerosing … La enfermedad de Charcot-Marie-Tooth o CMTDIA comprende un grupo heterogéneo de neuropatías que afectan al sistema nervios periférico, hereditarias y no inflamatorias. También se le puede llamar como atrofia muscular peroneal, neuropatía motora y sensorial hereditaria. Suele comenzar a los 10 a 20 años de edad, pero a veces comienza más tarde, hasta a los 6… crochet pattern for daisy granny square