Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

An autopsied case of ADSSL1 myopathy.

Neuromuscular disorders : NMD - 1 Nov 2021

Motoda Atsuko, Takahashi Tetsuya, Watanabe Chigusa, Tachiyama Yoshiro, Ochi Kazuhide, Saito Yoshihiko, Iida Aritoshi, Nishino Ichizo, Maruyama Hirofumi

Abstract excerpt

ADSSL1 myopathy is an inherited myopathy with limb weakness, respiratory muscle paralysis, dysphagia, and myocardial symptoms. We present an autopsy case of a 66-year-old male carrying compound heterozygous variants c.781G>A (p.D261N) and c.919delA (p.I307fs) in ADSSL1. He had not run fast since school with no family history. He showed a gradual progression of limb weakness and developed dyspnoea, dysphagia, and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Autopsy
Share to Fatal Outcome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Muscle, Skeletal

Share to Muscle Weakness

Share to Mutation

Share to Myopathies, Nemaline

Source

Identifiers

PMID: 34635388
DOI: 10.1016/j.nmd.2021.07.011

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An autopsied case of ADSSL1 myopathy.PMID 34635388Read ↗

ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features.Semantic proximity Read ↗

Distal myopathy with ADSSL1 mutations in Korean patients.Semantic proximity Read ↗

Consistent MRI pattern in ADSS1 myopathy with variable clinical presentations: A Korean cohort study.Semantic proximity Read ↗

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients.Semantic proximity Read ↗

ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.Semantic proximity Read ↗

Variability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of Literatures.Semantic proximity Read ↗

A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult.Semantic proximity Read ↗

Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.Semantic proximity Read ↗

Myofibrillar myopathy with limb-girdle phenotype in a Thai patient.Semantic proximity Read ↗

Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene.Semantic proximity Read ↗

Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects.Semantic proximity Read ↗

Hereditary myopathies with early respiratory insufficiency in adults.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.