Results 111 to 120 of about 6,857 (212)

Update of Emerinopathies’ clinical-genetic spectrum: the French network experience [PDF]

, 2015
France Leturcq, Rabah Ben Yaou
core   +1 more source

Clinical molecular genetics in the UK c.1975-c.2000 [PDF]

, 2014
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core  

A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement [PDF]

, 1996
Becker, A.E. (Anton), Bouwsma, G. (G.), Busch, H.F.M. (Herman), Kooj, A.J. (Anneke), Ledderhof, T.M. (T.), Res, J. (Jan), Troost, D. (Dirk), Visser, M. (Marianne) de, Voogt, W.G. (W.) de   +8 more
core   +1 more source

Genetic investigation of an Iraqi family with Emery-Dreifuss muscular dystrophy

Journal of Rare Diseases
Background Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder characterized by a distinctive combination of symptoms that affect both the skeletal muscles and the heart.
Mostafa Neissi, Ayoob Radhi Al-Zaalan, Adnan Issa Al-Badran, Javad Mohammadi-Asl   +3 more
doaj   +1 more source

[Emery-Dreifuss muscular dystrophy: case report].

Arquivos de neuro-psiquiatria, 2006
The Emery-Dreifuss muscular dystrophy is a form of muscular dystrophy that frequently presents early contractures and cardiac conduction defects, caused by emerin deficiency in the inner nuclear membrane of the muscular fibers. A 19-years-old man it presented muscle weakness and hypotrophy in the proximal upper and lower limbs, dysphagia and early ...
Ana Lucila Moreira, Carsten, Paulo José, Lorenzoni, Rosana Herminia, Scola, Lineu César, Werneck   +3 more
openaire   +1 more source

Emery–Dreifuss muscular dystrophy: a closer look at cardiac complications

European Heart Journal, 2023
Daria Kramarenko, Roddy Walsh
openaire   +2 more sources

Adult-onset PLEC-related congenital myasthenic syndrome-myopathy overlap with upper limb predominant weakness. [PDF]

Neurogenetics
Jose A, Azily AJ, Doyle K, Stals K, Lees H, McKenna C, McKnight AJ, McConville J, McMacken G.   +8 more
europepmc   +2 more sources

Autosomal-Recessive LMNA Dilated Cardiomyopathy. [PDF]

JACC Case Rep
Sterner RM, Coon LM, Black JL, Moyer AM, Maleszewski JJ, Baudhuin LM.   +5 more
europepmc   +1 more source

Assessing the Relationship of Quality of Life With Functional Status in a Large Cohort of Adult Patients With Neuromuscular Disorders. [PDF]

Neurol Clin Pract
Wong KSW, Sen A, Michell-Sodhi J, Moat D, McCallum M, Richardson M, Harris E, Mayhew AG, Guglieri M, Grover E, Diaz-Manera J, Robinson E, Elseed M, Mason J, Geagan C, James MK, Straub V, Marini-Bettolo C, Muni-Lofra R.   +18 more
europepmc   +1 more source

A Viewpoint on Reframing Genetic Myopathy Classification: A Unified, Semiotic, Tri-Axis Approach. [PDF]

Ann Indian Acad Neurol
Khadilkar SV, Halani HA.
europepmc   +1 more source