Results 111 to 120 of about 924,459 (214)

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source

CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT

Zdravniški Vestnik, 2001
Background. Myotonic dystrophy is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, catharacts, intellectual deterioration ...
David Neubauer, Breda Šušteršič, Darja Paro Panjan, Borut Peterlin, Janez Zidar   +4 more
doaj  

A clinical, histological and molecular study of nemaline congenital myopathy and congenital myopathy with minimal changes

, 2016
Introdução: As miopatias congênitas são doenças musculares genéticas caracterizadas por hipotonia e fraqueza muscular de início precoce na infância. Histologicamente são caracterizadas por alterações estruturais no músculo esquelético (corpos nemalínicos,
Moreno, Cristiane de Araujo Martins
core   +1 more source

Core myopathy in two siblings with a biallelic variant in the CACNA1S gene—A case series study

Clinical Case Reports
Key Clinical Message Homozygous variants of Calcium Voltage‐Gated Channel Subunit Alpha1 S (CACNA1S) gene mutation were previously identified as causes of periodic paralysis and congenital early‐onset myopathy, while it could be manifested as a late ...
Tara Khoeini, Ariana Kariminejad, Yalda Nilipour, Armin Ariaei, Hossein Najmabadi, Mojtaba Arabshahi, Mehrshid Faraji Zonooz, Bahram Haghi Ashtiani   +7 more
doaj   +1 more source

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

Brain Pathology, EarlyView.
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren, Carola Hedberg‐Oldfors, Kittichate Visuttijai, Sara Nordström, Hans Goebel, Anders Oldfors   +5 more
wiley   +1 more source

Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy

Acta Neuropathologica Communications, 2018
Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth. Mutations in nebulin, encoding a large sarcomeric protein required for thin filament function, are responsible ...
Tamar E. Sztal, Emily A. McKaige, Caitlin Williams, Viola Oorschot, Georg Ramm, Robert J. Bryson-Richardson   +5 more
doaj   +1 more source

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores

, 2002
Central core disease (CCD) is a congenital myopathy due to dominant mutations in the skeletal muscle ryanodine receptor gene (RYR1). The authors report three patients from two consanguineous families with symptoms of a congenital myopathy, cores on ...
Bydder, G, Halliger-Keller, B, Brockington, M, Davis, M R, Feng, L, Roper, H P, Jungbluth, H; id_orcid, Muntoni, F, Brown, S C, Mercuri, E, Ferreiro, A, Chattopadhyay, A, Sewry, C A, Laing, N G, Manzur, A Z, Muller, C R, Dubowitz, V   +16 more
core   +1 more source

Treatment for congenital toxoplasmosis: finding out what works [PDF]

, 2009
Evidence for the effectiveness of prenatal or postnatal treatment for congenital toxoplasmosis will be critical to guide policy about prenatal and neonatal screening over the next 10 years, let alone the next 100.
Gilbert, R, Ruth Gilbert, Gilbert, Ruth
core   +1 more source

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

Severe Form of Salih Myopathy Caused by Combination of Two Heterozygous TTN Mutations

Balkan Journal of Medical Genetics
Salih myopathy is autosomal recessive hereditary early-onset myopathy with fatal cardiomyopathy. It is a rare and heterogeneous form of congenital titinopathies (TTN).
Milojković M, Jarić M, Stojanović V, Barišić N, Kavečan I   +4 more
doaj   +1 more source