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Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features
- Source :
- Genes, Volume 11, Issue 7, Genes, Vol 11, Iss 716, p 716 (2020)
- Publication Year :
- 2020
- Publisher :
- Multidisciplinary Digital Publishing Institute, 2020.
-
Abstract
- We identified the known c.1_9del mutation in the PLEC gene in four unrelated females from consanguineous families of Turkish origin. All individuals presented with slowly progressive limb-girdle weakness without any dermatological findings, and dystrophic changes observed in their muscle biopsies. Additionally, the neurological examination revealed ptosis, facial weakness, fatigability, and muscle cramps in all four cases. In two patients, repetitive nerve stimulation showed a borderline decrement and a high jitter was detected in all patients by single-fiber electromyography. Clinical improvement was observed after treatment with pyridostigmine and salbutamol was started. We further characterize the phenotype of patients with limb-girdle muscular dystrophy R17 clinically, by muscle magnetic resonance imaging (MRI) features and by describing a common 3.8 Mb haplotype in three individuals from the same geographical region. In addition, we review the neuromuscular symptoms associated with PLEC mutations and the role of plectin in the neuromuscular junction.
- Subjects :
- Adult
0301 basic medicine
Weakness
Pathology
medicine.medical_specialty
Adolescent
lcsh:QH426-470
plectin
Electromyography
Article
PLEC
03 medical and health sciences
0302 clinical medicine
Ptosis
Genetics
medicine
Humans
Repetitive nerve stimulation
Muscular dystrophy
Child
Genetics (clinical)
Myasthenic Syndromes, Congenital
medicine.diagnostic_test
business.industry
limb-girdle muscular dystrophy
Homozygote
Facial weakness
Exons
medicine.disease
myasthenia
lcsh:Genetics
Phenotype
030104 developmental biology
Muscular Dystrophies, Limb-Girdle
Mutation
Female
medicine.symptom
business
030217 neurology & neurosurgery
Limb-girdle muscular dystrophy
Muscle cramp
Subjects
Details
- Language :
- English
- ISSN :
- 20734425
- Database :
- OpenAIRE
- Journal :
- Genes
- Accession number :
- edsair.doi.dedup.....56b4f36d8f03d6adf456c1ba436f19ff
- Full Text :
- https://doi.org/10.3390/genes11070716