What is it about?
It is a muscular dystrophy called Facioscapulo-humeral -dystrophy type1.
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Why is it important?
Is the largest series reported and beside index cases we studied the family for the presence of reduced allele, all was done scoring both patient and relatives with the clinical score we previously studied and validated in Muscle&Nerve 2010.
Perspectives
This is study is important if someone will do a clinical study in children or if these patients will undergo genetic counseling
Prof Corrado Angelini
Universita degli Studi di Padova Polo Bibliotecario di Scienze Farmacologia e Scienze Farmaceutiche
Read the Original
This page is a summary of: Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry, BMJ Open, January 2016, BMJ,
DOI: 10.1136/bmjopen-2015-007798.
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