Results 131 to 140 of about 38,417 (217)

Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy. [PDF]

Sci Rep, 2023
Magyar ZÉ, Hevesi J, Groom L, Dirksen RT, Almássy J.   +4 more
europepmc   +1 more source

Distal Agrin (AGRN) Congenital Myasthenic Syndrome With Mitochondrial Dysfunction

European Journal of Neurology, Volume 33, Issue 7, July 2026.
ABSTRACT Background Agrin‐congenital myasthenic syndrome (AGRN‐CMS) is a rare, heterogeneous genetic disorder of the neuromuscular transmission that can present from infancy to adulthood. The clinical phenotype includes distal weakness mimicking distal myopathies.
Mariana Manoel Oku, Zhiyv Niu, Duygu Selcen, William J. Litchy, Margherita Milone   +4 more
wiley   +1 more source

Multi‐Omics Landscape of Paraspinal Muscles in Spinal Muscular Atrophy With Scoliosis

Journal of Cellular and Molecular Medicine, Volume 30, Issue 13, July 2026.
ABSTRACT Most spinal muscular atrophy (SMA) patients develop severe scoliosis by late adolescence. Given that the paraspinal muscles—particularly the multifidus—are indispensable for maintaining spinal stability, their site‐specific multi‐omics characteristics in SMA remain insufficiently defined. Herein, integrated multi‐omics sequencing was performed
Zhen Wang, Junduo Zhao, Xu'an Huang, Weiyun Chen, Jianxiong Shen   +4 more
wiley   +1 more source

Congenital myopathy presenting as recurrent pneumonia with lung collapse and pulmonary artery hypertension. [PDF]

BMJ Case Rep, 2023
Vardhan A, Singh D, Singh D, Tripathi S, Kumar M, Singhai A.   +5 more
europepmc   +1 more source

Congenital dystrophy-like myopathy in a Brittany Spaniel puppy

, 1995
A congenital myopathy is reported in the only male puppy from a litter of Brittany Spaniels. The condition was manifested clinically as generalized weakness, mild generalized muscle atrophy and difficulty in eating due to tongue muscle hypertrophy ...
Roels, Stefan, Van Ham, Luc, Hoorens, Joseph   +2 more
core  

Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects. [PDF]

Brain, 2023
Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R, Töpf A, O'Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schröder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Röbisch L, Hentschel A, Grüneboom A, Fuerst DO, Kuechler A, Tzschach A, Depienne C, Lochmüller H.   +32 more
europepmc   +1 more source

Myopathy with Congenital Fiber Type Disproportion (CFTD) -A case report- [PDF]

, 2002
Congenital fiber type disproportion (CFTD) has been described as a form of congenital myopathy characterized by the smallness and marked predominance of type I fibers in a muscle biopsy.
조성래
core  

Bone Quality in Patients with a Congenital Myopathy: A Scoping Review. [PDF]

J Neuromuscul Dis, 2023
Bouman K, Dittrich ATM, Groothuis JT, van Engelen BGM, Janssen MCH, Voermans NC, Draaisma JMT, Erasmus CE.   +7 more
europepmc   +1 more source

Congenital fiber type disproportion: A rare type of congenital myopathy: A report of four cases

, 2004
Congenital fiber type disproportion is a rare type of congenital myopathy which presents as hypotonia, delayed motor milestones and dysmorphic facies. During the past 2 years we received 449 muscle biopsies, of which 4 cases were diagnosed as congenital ...
V. Kalra, M. C. Sharma, A. M. Ralte, S. Gulati, S. K. Atri, C. Sarkar   +5 more
core  

Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile Hydrocephalus. [PDF]

Case Rep Genet, 2023
Balasundaram P, Avulakunta ID, Delfiner L, Levy P, Forman KR.   +4 more
europepmc   +1 more source