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Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report [PDF]

Frontiers in Genetics
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) and Becker muscular dystrophy (BMD) are distinct disorders caused by different genetic variations and exhibiting different inheritance patterns.
Menglin Tan, Huiyi Huo, Jieming Feng, Chandi Wang, Suhua Jiang   +4 more
doaj   +2 more sources

A review of Genetic Etiology and Emerging Molecular Therapies for FSHD in Preclinical Studies [PDF]

Reviews in Clinical Medicine, 2021
Facioscapulohumeral muscular dystrophy is one of the most common musculoskeletal diseases with a considerable burden. Most of the affected individuals experience muscle weakness as the common muscular symptom.
Mohammad Reza Seyyed taghia, Reza Jafarzadeh Esfehani, Reza Boostani, Mohammad Shariati, Ariane Sadr Nabavi   +4 more
doaj   +1 more source

Road to conception and successful delivery for a facioscapulohumeral muscular dystrophy patient

SAGE Open Medical Case Reports, 2022
Facioscapulohumeral muscular dystrophy is a muscular dystrophy affecting all ages, primarily people in the second decade. The disease is initially presented with face, shoulder girdle, and upper arm involvement, followed by lower extremity muscle ...
Olga Triantafyllidou, Konstantinos Stavridis, Stavroula Lila Kastora, Nikolaos Vlahos   +3 more
doaj   +1 more source

Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data [PDF]

, 2017
Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral dystrophy (FSHD) patients. Although small series of early onset FSHD patients have been reported, comprehensive data on the clinical phenotype is missing.
Brouwer, Oebele F., Dorobek, Malgorzata, Erasmus, Corrie E., Goselink, Rianne J. M., Mah, Jean K., Nikolic, Ana, Okkersen, Kees, Padberg, George W., Schreuder, Tim H. A., Tupler, Rossella, Van Engelen, Baziel G. M., Voermans, Nicol C.   +11 more
core   +16 more sources

Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring

Molecular Therapy: Methods & Clinical Development, 2020
Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou, Leonidas A. Phylactou   +1 more
doaj   +1 more source

First person – Andreia Nunes

Disease Models & Mechanisms, 2021
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Andreia Nunes is first author on ‘ Identification
doaj   +1 more source

Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights

RNA Biology, 2022
Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are some ...
Andrea C. Kakouri, Demetris Koutalianos, Andrie Koutsoulidou, Anastasis Oulas, Marios Tomazou, Nikoletta Nikolenko, Chris Turner, Andreas Roos, Anna Lusakowska, Katarzyna Janiszewska, George K. Papadimas, Constantinos Papadopoulos, Evangelia Kararizou, Eleni Zamba Papanicolaou, Grainne Gorman, Hanns Lochmüller, George M. Spyrou, Leonidas A. Phylactou   +17 more
doaj   +1 more source

Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update

Indian Journal of Pathology and Microbiology, 2022
Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration.
Deepti Narasimhaiah, Megha S Uppin, Prajnya Ranganath   +2 more
doaj   +1 more source

Reprogramming of adult human peripheral blood mononuclear cells into hiPSCs from two patients with facioscapulohumeral muscular dystrophy type 1

Stem Cell Research, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophy. FSHD type 1 (FSHD1) is caused by multicopy contraction of D4Z4 repeats on chromosome 4q35.
Fuze Zheng, Long Chen, Liangliang Qiu, Lin Lin, Xin Lin, Qifang He, Lili Wang, Zhixian Ye, Minting Lin, Zhiqiang Wang   +9 more
doaj   +1 more source

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy [PDF]

, 2016
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations.
Conn, Kelly, Fitzgerald, Bryan, Hilbert, James E., Luebbe, Elizabeth A., Moxley, Richard T., III, Parkhill, Amy L., Smith, Joanne, Walker, Andrew   +7 more
core   +2 more sources