Results 151 to 160 of about 35,591 (238)

Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome. [PDF]

Mol Syndromol, 2022
Surucu Kara I, Oncul U, Kose E, Turan HM, Ceylan AC, Eminoglu FT.   +5 more
europepmc   +1 more source

A Novel LAMA2 Mutation (c.7412G>A) Was Found in a Chinese Patient With Congenital Muscular Dystrophy. [PDF]

J Cell Mol Med
Zhao M, Liu Y, Fan L, Liu Z, Deng Y, Tao L.   +5 more
europepmc   +1 more source

Ophthalmologic manifestations associated with Fukutin (FKTN) variant subtypes in Korean patients with Fukuyama congenital muscular dystrophy: a single-center retrospective case series. [PDF]

BMC Ophthalmol
Lee SJ, Joo HJ, Jo DH, Jung JH, Lee K, Kim JH, Kim SJ, Chae JH.   +7 more
europepmc   +1 more source

Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report. [PDF]

World J Clin Cases, 2022
Hu J, Chen YH, Fang X, Zhou Y, Chen F.
europepmc   +1 more source

Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial. [PDF]

Neuropsychopharmacol Rep
Murakami T, Sato T, Ishizuka T, Nakamura H, Tachimori H, Harada H, Oi H, Hatano K, Oba MS, Ishiguro K, Shichiji M, Kihara Y, Takeshima Y, Taniguchi-Ikeda M, Hattori A, Shimizu-Motohashi Y, Awano H, Bo R, Nagata S, Ishigaki K.   +19 more
europepmc   +1 more source

Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report. [PDF]

Acta Myol, 2022
Picillo E, Torella A, Passamano L, Nigro V, Politano L.   +4 more
europepmc   +1 more source

A child of congenital muscular dystrophy-dystroglycanopathy with a novel variant in the <i>CRPPA</i> gene: a case report and literature review. [PDF]

Transl Pediatr
Zhang S, Wu M, Li X, Wang S, Zhai R, Li L, Li Z, Guo Q.   +7 more
europepmc   +1 more source

Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy. [PDF]

Int J Environ Res Public Health, 2022
Sabatelli P, Merlini L, Di Martino A, Cenni V, Faldini C.   +4 more
europepmc   +1 more source

Novel CHKB Mutation Causing Megaconial Congenital Muscular Dystrophy: A Case Report from India. [PDF]

Ann Indian Acad Neurol
Gowda VK, Srinivasan VM, Krishnanada V, Sathyakumar R, Mahadevan A.   +4 more
europepmc   +1 more source