Results 61 to 70 of about 7,618,843 (150)

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]

, 1981
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
core   +1 more source

Data_Sheet_1_A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy.docx

, 2021
Background: Congenital myopathy constitutes a heterogeneous group of orphan diseases that are mainly classified on the basis of muscle biopsy findings. This study aims to estimate the prevalence of congenital myopathy through a systematic review and meta-
Huan Yang (36076), Kun Huang (136241), Fang-Fang Bi (660841)   +2 more
core   +1 more source

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.: Recessive Mutations in RYR1 Cause CFTD

, 2010
International audienceThe main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy of type 1 (slow twitch) fibers compared to type 2 (fast twitch) fibers.
Farrell, Michael, A., Marty, Isabelle, Cooper, Sandra, T., Bushby, Kate, Perry, Margaret, Muntoni, Francesco, Straub, Volker, Smith, Robert, L. L., Clarke, Nigel, F., Kornberg, Andrew, J., Lillis, Suzanne, North, Kathryn, N., Waddell, Leigh, B., Guglieri, Michela, Lunardi, Joel, King, Mary, D., Monnier, Nicole, North, Kathryn,, Waddell, Leigh,, Farrell, Michael,, Kornberg, Andrew,, Cooper, Sandra,, Clarke, Nigel,, King, Mary,, Smith, Robert,   +24 more
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Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene [PDF]

, 2012
Missense mutations in human TPM3 gene encoding γ-tropomyosin expressed in slow muscle type 1 fibers, were associated with three types of congenital myopathies—nemaline myopathy, cap disease and congenital fiber type disproportion.
Dudek, Elżbieta, Moraczewska, Joanna, Robaszkiewicz, Katarzyna, Kasprzak, Andrzej A.   +3 more
core   +1 more source

Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence

, 2009
Congenital fibre type disproportion (CFTD) is a histological abnormality characterized by small type 1 muscle fibres, normally sized type 2 fibres and absence of other pathological features [1].
NERI, Marcella, FERLINI, Alessandra, Tomelleri G., Marini M, GUALANDI, Francesca, Vattemi G, Tonin P, Guglielmi V   +7 more
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Free left ventricular wall rupter in a newborn. [PDF]

, 2015
Free left ventricular wall rupture is very rare but mostly fatal complication of acute myocardial infarction in the elderly. Without the presence of congenital heart disease, preceding cardiac surgery or an isolated ventricular diverticulum ...
Wagner, Bendicht Peter, Hutter, Damian, Wagner, B., Kreiter, Bianca, Hutter, Damian Marco, Kadner, A, Riedel, T., Pfammatter, Jean-Pierre, Riedel, Thomas, Kadner, Alexander   +9 more
core   +1 more source

Abstract

JPGN Reports, Volume 6, Issue S2, Page S1-S814, September 2025.
wiley   +1 more source

ePoster

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

2024 ACVIM Forum Research Abstract Program

Journal of Veterinary Internal Medicine, Volume 38, Issue 5, Page 2840-2970, September/October 2024.
wiley   +1 more source

A Case of Congenital Neuromuscular Disease with Uniform Type 1 Fiber

, 2004
Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) is a rare but distinct form of nonprogressive, congenital myopathy. CMNDU1 is characterized by a type 1 muscle fiber content of more than 99%.
최영철, 강성웅, 이경열
core   +1 more source