Cargando…
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
BACKGROUND: Autosomal recessive limb-girdle muscular dystrophies (LGMD2) include a number of disorders with heterogeneous etiology that cause predominantly weakness and wasting of the shoulder and pelvic girdle muscles. In this study, we determined the frequency of LGMD subtypes within a cohort of C...
Autores principales: | Stehlíková, Kristýna, Skálová, Daniela, Zídková, Jana, Mrázová, Lenka, Vondráček, Petr, Mazanec, Radim, Voháňka, Stanislav, Haberlová, Jana, Hermanová, Markéta, Zámečník, Josef, Souček, Ondřej, Ošlejšková, Hana, Dvořáčková, Nina, Solařová, Pavla, Fajkusová, Lenka |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145250/ https://www.ncbi.nlm.nih.gov/pubmed/25135358 http://dx.doi.org/10.1186/s12883-014-0154-7 |
Ejemplares similares
-
CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel
por: Skálová, Daniela, et al.
Publicado: (2013) -
Inherited ichthyoses: molecular causes of the disease in Czech patients
por: Borská, Romana, et al.
Publicado: (2019) -
Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping
por: Panovský, Roman, et al.
Publicado: (2019) -
Bending of DNA duplexes with mutation motifs
por: Růžička, Michal, et al.
Publicado: (2019) -
Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients
por: Laššuthová, P., et al.
Publicado: (2021)