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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Digenic inheritance of deleterious variants in serine/arginine protein kinase 3 (SRPK3) and titin (TTN) leads to a progressive early onset skeletal muscle myopathy. Zebrafish double mutants exhibit a similar myopathy phenotype accompanied by myofibrillar disorganization.

Ana Töpf
Dan Cox
Volker Straub
ResearchOpen Access01 Mar 2024
Nature Genetics

Volume: 56, P: 395-407
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Missense variants in RNA-binding proteins underlie many diseases. Here the authors report an oculopharyngeal muscular dystrophy caused by heterozygous frameshift mutations in HNRNPA2B1 that alter its nucleocytoplasmic transport dynamics and result in cytoplasmic accumulation of hnRNPA2 protein.

Hong Joo Kim
Payam Mohassel
J. Paul Taylor
ResearchOpen Access28 Apr 2022
Nature Communications

Volume: 13, P: 1-18
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Whole genome sequencing is emerging as a first-line test for rare genetic diseases. In this study, authors maximise diagnoses by supplementing existing semiautomated analyses with clinically driven reevaluation of genomic data by a specialist multidisciplinary team.

William L. Macken
Micol Falabella
Robert D. S. Pitceathly
ResearchOpen Access07 Nov 2022
Nature Communications

Volume: 13, P: 1-9
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Michael Duchen, Francesco Muntoni, Eamonn Sheridan and colleagues show that loss-of-function mutations in MICU1 cause a recessive disorder characterized by proximal myopathy, learning difficulties and progressive extrapyramidal motor deficits. The mutations alter mitochondrial calcium homeostasis, leading to mitochondrial damage and dysfunction.

Clare V Logan
György Szabadkai
Eamonn Sheridan
Research15 Dec 2013
Nature Genetics

Volume: 46, P: 188-193
Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction

The congenital myopathies are a group of early-onset neuromuscular disorders characterized by muscle weakness and distinctive structural abnormalities in skeletal muscle. In this Review, the authors summarize the genetic, clinical and pathological features of the main congenital myopathies and discuss current and future approaches to treatment and management.

Heinz Jungbluth
Susan Treves
Francesco Muntoni
Reviews02 Feb 2018
Nature Reviews Neurology

Volume: 14, P: 151-167
Enhanced apoptosis as a possible mechanism to self-limit SARS-CoV-2 replication in porcine primary respiratory epithelial cells in contrast to human cells

Rahul K. Nelli
Kruttika-S Phadke
Luis G. Giménez-Lirola
ResearchOpen Access10 Dec 2021
Cell Death Discovery

Volume: 7, P: 1-10
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

Nandaki Keshavan
Jose Abdenur
Shamima Rahman
Research29 Aug 2019
Genetics in Medicine

Volume: 22, P: 199-209

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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction

Enhanced apoptosis as a possible mechanism to self-limit SARS-CoV-2 replication in porcine primary respiratory epithelial cells in contrast to human cells

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction

Enhanced apoptosis as a possible mechanism to self-limit SARS-CoV-2 replication in porcine primary respiratory epithelial cells in contrast to human cells

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

Search

Quick links