Results 71 to 80 of about 927 (180)

A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency

, 2020
\ua9 2019. We describe the presentation and follow-up of a three-year-old girl with nemaline myopathy due to a de-novo variant in ACTA1 (encoding skeletal alpha actin) and moderately low enzyme level of Complex I of the mitochondrial respiratory chain ...
Pierre G, Majumdar A, Taylor RW, Selby V, Mason F, Pula S, McFarland R, Urankar K, Langton-Hewer S, Vijayakumar K, Norman A   +10 more
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ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant [PDF]

, 2018
A male neonate presented with severe weakness, hypotonia, contractures and congenital scoliosis. Skeletal muscle specimens showed marked atrophy and degeneration of fast fibers with striking nemaline rods and hypertrophy of slow fibers that were ...
Waddell, LB, Sandaradura, SA, Sudarsanam, A, Nash, BM, Davis, MR, Algar, EM, Brammah, S, Jones, KJ, Troedson, C, Bournazos, A, MacArthur, DG, Peters, GB, Cummings, BB, Charlton, A, Wilson, MJ, Cooper, ST, Laing, NG, Mallawaarachchi, A, North, KN   +18 more
core   +1 more source

Autosomal dominant nemaline myopathy: a new phenotype unlinked to previously known genetic loci

, 2007
We report a large family with a mild form of autosomal dominant nemaline myopathy and a new phenotype. Onset of symptoms was in infancy with hypotonia and motor delay. Weakness involved neck flexors, abdominal and proximal limb muscles.
Mittaz, L., Dunand, M., Kuntzer, T., Bonafe, L., Jeannet, P. Y., Lobrinus, J. A.   +5 more
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Nemaline myopathy: description of an adult onset case.

, 2002
Nemaline myopathy is a rare congenital muscle disease, with neonatal or adult onset. We report clinical and ultrastructural study of a 73-year-old woman whose symptoms manifested at age 40 years with proximal muscle weakness, nocturnal cramps, muscle ...
Dotti M, Malandrini A, Mondelli M, Federico A, Gambelli S, Ginanneschi F   +5 more
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A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.

, 2003
Item does not contain fulltextNemaline myopathy is a congenital neuromuscular disorder characterized by muscle weakness and the presence of nemaline rods. Five genes have now been associated with nemaline myopathy: alpha-tropomyosin-3 (TPM3), alpha-actin
LAING, N, Laing, N., Gommans, I.M.P., Saar, K., KREMER, H, GOMMANS, IMP, Duijnhoven, G.C.F. van, Lamont, P., MASTAGLIA, F, Ter Laak, H.J., Laak, H.J. ter, van Duijnhoven, G., van Engelen, B.G.M., Laing, N.G., LAMONT, P, VOGELS, OJM, VAN ENGELEN, BGM, Vogels, O.J.M., TER LAAK, HJ, Lammens, M., DAVIS, M, Lammens, Martin, Davis, M., Lammens, M.M.Y., VAN DUIJNHOVEN, G, Engelen, B.G.M. van, SAAR, K, Kremer, J.M.J., Reis, A., REIS, A, Mastaglia, F., ter Laak, J., Kremer, H.   +32 more
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SEQUENCE VARIANTS IN THE RYR1 GENE AND GENETIC DISEASES: MALIGNANT HYPERTHERMIA AND CONGENITAL MYOPATHIES

, 2009
This PhD thesis has been focused on the identification and functional characterization of sequence variants in the RYR1 gene, associated with Malignant hyperthermia (MH) and some congenital myopathies (CMs).
Perrotta, Giuseppa
core  

Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations

, 2019
We describe the long-term follow-up of a patient with severe nemaline myopathy due to a novel homozygous mutation in the Leiomodin 3 (LMOD3) gene and describe the histopathological characteristics of the disease.
Oldfors, Anders,, Oldfors Hedberg, Carola,, Darin, Niklas,, Michael, Eva,, Visuttijai, Kittichate,, Wilmar, Philip,   +5 more
core   +1 more source

Novel autosomal dominant TNNT1 mutation causing nemaline myopathy

, 2017
Background: Nemaline myopathy (NEM) is one of the three major forms of congenital myopathy and is characterized by diffuse muscle weakness, hypotonia, respiratory insufficiency, and the presence of nemaline rod structures on muscle biopsy.
Konersman, Chamindra G., Patel, Shailendra B., Winder, Thomas L., Lawlor, Michael W., Lagier‐Tourenne, Clotilde, Freyermuth, Fernande   +5 more
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Centronuclear Myopathy with Abundant Nemaline Rods in a Japanese Black and Hereford Crossbred Calf

application/pdfHistopathological examination was performed on skeletal and diaphragmatic muscles from an 8-month-old male crossbred calf showing abnormal gait and tremor of the hindlimbs.
Ishihara, Kousuke, Sekiya, Akio, Shimanuki, Ikuya, Kamio, Kyouhei, 古岡, 秀文, Takahashi, Yoshiko, Kato, Satomi, Ide, Mitugu, Furuoka, Hidefumi   +8 more
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