## Abstract **Background:** Neuromuscular disease is a broad term that encompasses many diseases that either directly, via an intrinsic muscle disorder, or indirectly, via a nerve disorder, impairs muscle function. Here we report the experience of our group in the counselling and molecular prenatal
Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy
β Scribed by Esposito, Gabriella; Ruggiero, Raffaella; Savarese, Maria; Savarese, Giovanni; Tremolaterra, Maria Roberta; Salvatore, Francesco; Carsana, Antonella
- Book ID
- 120435016
- Publisher
- Walter de Gruyter GmbH & Co. KG
- Year
- 2013
- Tongue
- English
- Weight
- 314 KB
- Volume
- 51
- Category
- Article
- ISSN
- 1434-6621
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Deterioration of respiratory function in patients with neuromuscular disorders is primarily responsible for the high mortality associated with these diseases. A review of Duchenne muscular dystrophy and spinal muscular atrophy, the leading neuromuscular disorders affecting children, will be followed
## Abstract A man with spinal and bulbar muscular atrophy (SBMA) had a short (CTG)n expansion in the myotonic dystrophy protein kinase gene as well as (CAG)n expansion in the androgen receptor gene in leukocytes. The patient had the characteristic clinical findings of SBMA, but none of myotonic dys