Resultat af undersøgelse

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Muskelsvindfonden lavede for 3 år siden en stor undersøgelse om de kongenittte myopathier (- herunder CNM).

Her er en foreløbig publikationsliste

·         Witting N, Werlauff U, Duno M, Vissing J. Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark. Neurol Genet. 2017 Mar 21;3(2):e140 (kan ses her https://www.ncbi.nlm.nih.gov/pubmed/28357410)

·         Zaharieva IT et al. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy. Brain. 2016 Mar;139(Pt 3):674-91

·         Witting N, Werlauff U, Duno M, Vissing J. Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations. Muscle Nerve. 2016 Mar;53(3):388-93

·         Werlauff U, Petri H, Witting N, Vissing J. Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years. J Neuromuscul Dis. 2015 Jun 4;2(2):167-174

·         Citirak G, Witting N, Duno M, Werlauff U, Petri H, Vissing J. Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy. Neuromuscul Disord. 2014 Apr;24(4):325-30.

·         Werlauff U, Højberg A, Firla-Holme R, Steffensen BF, Vissing J. Fatigue in patients with spinal muscular atrophy type II and congenital myopathies: evaluation of the fatigue severity scale. Qual Life Res. 2014 Jun;23(5):1479-88.

·         + en artikel, som er indsendt og i review