Disase Detail : MGeND

Information

Disease name: nemaline myopathy
Disease ID: DOID:3191
Description: "A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies." [url:http\://en.wikipedia.org/wiki/Nemaline_myopathy, url:http\://ghr.nlm.nih.gov/condition/nemaline-myopathy, url:https\://www.mda.org/disease/congenital-myopathies/types/nemaline-myopathy, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract]

Disease area statistics

Chromosome band

Gene symbol	Chromosome	Start	Stop	The number of variant
ACTA1	1	229,431,245	229,434,094	48
KLHL40	3	42,685,537	42,692,544	4
TPM2	9	35,682,932	35,689,925	4
LMOD3	3	69,106,065	69,122,595	2

Annotation

Genes	Mutation	Description	Source	Links

NCT ID	Status	Phase	Summary	Start date	Completion date
NCT03728803	Completed	N/A	Inspiratory Muscle Training in Nemaline Myopathy	October 10, 2018	March 25, 2021
NCT05099107	Enrolling by invitation	N/A	Changes of Motor Function Tests in Congenital Myopathy Subjects Treated With Oral Salbutamol as Compared to no Treatment	October 25, 2021	December 31, 2025
NCT06157268	Not yet recruiting		The Natural History and Muscle Fatigability of Patients With Congenital Myopathies.	December 2023	November 2026
NCT00272883	Recruiting		Molecular and Genetic Studies of Congenital Myopathies	August 2003	January 2050
NCT02035501	Unknown status	Phase 2	Treatment of TNNT1-Myopathy With L-Tyrosine.	January 2014

nemaline myopathy