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Quoted phrase not found in phrase index: "Congenital myasthenic syndrome 8"
Page 1
Congenital myasthenic syndromes.
Finsterer J. Finsterer J. Orphanet J Rare Dis. 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. Orphanet J Rare Dis. 2019. PMID: 30808424 Free PMC article.
OBJECTIVES: Congenital myasthenic syndromes (CMSs) are a genotypically and phenotypically heterogeneous group of neuromuscular disorders, which have in common an impaired neuromuscular transmission. ...RESULTS: Currently, mutations in 32 genes are made respon …
OBJECTIVES: Congenital myasthenic syndromes (CMSs) are a genotypically and phenotypically heterogeneous group of neurom …
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF, Altamura C, Vicart S, Fontaine B. Desaphy JF, et al. J Neuromuscul Dis. 2021;8(3):357-381. doi: 10.3233/JND-200582. J Neuromuscul Dis. 2021. PMID: 33325393 Free PMC article.
BACKGROUND: Skeletal muscle ion channelopathies include non-dystrophic myotonias (NDM), periodic paralyses (PP), congenital myasthenic syndrome, and recently identified congenital myopathies. ...However, hypokalemic PP patients carrying sodium channel …
BACKGROUND: Skeletal muscle ion channelopathies include non-dystrophic myotonias (NDM), periodic paralyses (PP), congenital myasth …