Back to Search
Start Over
Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review
- Source :
- BMC Musculoskeletal Disorders, BMC Musculoskeletal Disorders, Vol 21, Iss 1, Pp 1-8 (2020)
- Publication Year :
- 2020
- Publisher :
- BioMed Central, 2020.
-
Abstract
- Background Limb girdle muscular dystrophy type 2Y (LGMD2Y) is a rare subgroup of limb girdle muscular dystrophy featuring limb-girdle weakness, tendon contracture and cardiac involvement. It is caused by the mutation of TOR1AIP1, which encodes nuclear membrane protein LAP1 (lamina-associated polypeptide 1) and comprises heterogeneous phenotypes. The present study reported a patient with a novel homozygous TOR1AIP1 mutation that presented with selective muscle weakness, which further expanded the phenotype of LGMD2Y- and TOR1AIP1-associated nuclear envelopathies. Case presentation A 40-year-old male presented with Achilles tendon contracture and muscle weakness that bothered him from 8 years old. While the strength of his distal and proximal upper limbs was severely impaired, the function of his lower limbs was relatively spared. Muscle pathology showed dystrophic features, and electron microscopy showed ultrastructural abnormalities of disrupted muscle nuclei envelopes. Whole-exome sequencing showed a frameshift mutation in TOR1AIP1 (c.98dupC). Conclusion We reported a novel mild phenotype of LGMD2Y with relatively selective distal upper limb weakness and joint contracture and revealed the heterogeneity of LGDM2Y and the role of the LAP1 isoform by literature review.
- Subjects :
- Adult
Male
medicine.medical_specialty
Weakness
lcsh:Diseases of the musculoskeletal system
Contracture
Case Report
Nuclear envelopathies
LGM2Y
Frameshift mutation
Tendons
03 medical and health sciences
0302 clinical medicine
Rheumatology
Internal medicine
medicine
Humans
Orthopedics and Sports Medicine
Achilles tendon contracture
Joint Contracture
Child
030203 arthritis & rheumatology
030222 orthopedics
Muscle Weakness
business.industry
Muscle weakness
Anatomy
LAP1
medicine.disease
Phenotype
Muscular Dystrophies, Limb-Girdle
Mutation
lcsh:RC925-935
medicine.symptom
business
Tendon contracture
Limb-girdle muscular dystrophy
Subjects
Details
- Language :
- English
- ISSN :
- 14712474
- Volume :
- 21
- Database :
- OpenAIRE
- Journal :
- BMC Musculoskeletal Disorders
- Accession number :
- edsair.doi.dedup.....39f470d066b1848e4ea8019e10bc626a