Results 141 to 150 of about 35,422 (230)

Congenital muscular dystrophy in a dog with a LAMA2 gene deletion. [PDF]

J Vet Intern Med, 2022
Shelton GD, Minor KM, Thomovsky S, Guo LT, Friedenberg SG, Cullen JN, Mickelson JR.   +6 more
europepmc   +1 more source

Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review. [PDF]

Skelet Muscle, 2022
Magri F, Antognozzi S, Ripolone M, Zanotti S, Napoli L, Ciscato P, Velardo D, Scuvera G, Nicotra V, Giacobbe A, Milani D, Fortunato F, Garbellini M, Sciacco M, Corti S, Comi GP, Ronchi D.   +16 more
europepmc   +1 more source

Impact of maternal compensation on developmental phenotypes in a zebrafish model of severe congenital muscular dystrophy. [PDF]

PLoS Genet
Flannery KP, Mowla S, Battula N, Clark LR, Oliveira CD, Simhon LM, Liu D, Venkatesan C, Karas BF, Terez KR, Burbano D, Manzini MC.   +11 more
europepmc   +1 more source

Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy. [PDF]

Sci Rep, 2021
Murakami T, Sato T, Adachi M, Ishiguro K, Shichiji M, Tachimori H, Nagata S, Ishigaki K.   +7 more
europepmc   +1 more source

LAMA2 Nonsense Variant in an Italian Greyhound with Congenital Muscular Dystrophy. [PDF]

Genes (Basel), 2021
Christen M, Indzhova V, Guo LT, Jagannathan V, Leeb T, Shelton GD, Brocal J.   +6 more
europepmc   +1 more source

A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy. [PDF]

BMC Med Genomics
Nejati P, Falsafi N, Alimoradi E, Khosravi T, Kamari M, Oladnabi M, Alibakhshi R.   +6 more
europepmc   +1 more source

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