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Quoted phrase not found in phrase index: "Myopathy, distal, 6, adult-onset, autosomal dominant"
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Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients.
Udd B, Partanen J, Halonen P, Falck B, Hakamies L, Heikkilä H, Ingo S, Kalimo H, Kääriäinen H, Laulumaa V, et al. Udd B, et al. Arch Neurol. 1993 Jun;50(6):604-8. doi: 10.1001/archneur.1993.00540060044015. Arch Neurol. 1993. PMID: 8503797
PATIENTS: Thirty-six previously described patients and 30 additional patients from the current survey, with 41 symptomatic patients and 25 subjectively asymptomatic affected relatives. RESULTS: There were 66 patients with late adult-onset tibial muscular dystrophy. …
PATIENTS: Thirty-six previously described patients and 30 additional patients from the current survey, with 41 symptomatic patients and 25 s …
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
Savarese M, Palmio J, Poza JJ, Weinberg J, Olive M, Cobo AM, Vihola A, Jonson PH, Sarparanta J, García-Bragado F, Urtizberea JA, Hackman P, Udd B. Savarese M, et al. Ann Neurol. 2019 Jun;85(6):899-906. doi: 10.1002/ana.25470. Epub 2019 Apr 3. Ann Neurol. 2019. PMID: 30900782
OBJECTIVE: To clinically and pathologically characterize a cohort of patients presenting with a novel form of distal myopathy and to identify the genetic cause of this new muscular dystrophy. METHODS: We studied 4 families (3 from Spain and 1 from Sweden) suffering …
OBJECTIVE: To clinically and pathologically characterize a cohort of patients presenting with a novel form of distal myopathy …
Novel valosin-containing protein mutations associated with multisystem proteinopathy.
Al-Tahan S, Al-Obeidi E, Yoshioka H, Lakatos A, Weiss L, Grafe M, Palmio J, Wicklund M, Harati Y, Omizo M, Udd B, Kimonis V. Al-Tahan S, et al. Neuromuscul Disord. 2018 Jun;28(6):491-501. doi: 10.1016/j.nmd.2018.04.007. Epub 2018 Apr 17. Neuromuscul Disord. 2018. PMID: 29754758
Over fifty missense mutations in the gene coding for valosin-containing protein (VCP) are associated with a unique autosomal dominant adult-onset progressive disease associated with combinations of proximo-distal inclusion body myopathy ( …
Over fifty missense mutations in the gene coding for valosin-containing protein (VCP) are associated with a unique autosomal domin …
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.
Kimonis VE, Mehta SG, Fulchiero EC, Thomasova D, Pasquali M, Boycott K, Neilan EG, Kartashov A, Forman MS, Tucker S, Kimonis K, Mumm S, Whyte MP, Smith CD, Watts GD. Kimonis VE, et al. Am J Med Genet A. 2008 Mar 15;146A(6):745-57. doi: 10.1002/ajmg.a.31862. Am J Med Genet A. 2008. PMID: 18260132 Free PMC article.
Inclusion body myopathy with Paget disease of the bone (PDB) and/or frontotemporal dementia (IBMPFD, OMIM 167320), is a progressive autosomal dominant disorder caused by mutations in the Valousin-containing protein (VCP, p97 or CDC48) gene. ...The majority we …
Inclusion body myopathy with Paget disease of the bone (PDB) and/or frontotemporal dementia (IBMPFD, OMIM 167320), is a progressive …