Results 131 to 140 of about 7,618,843 (150)

Congenital Fiber Type Disproportion Myopathy

Clinical Pediatrics, 1985
Lucio Santoro, Ennio DEL GIUDICE, Domenico Francica, Alfonso Romano, Giuseppe Vita, Fabrizio Barbieri   +5 more
openalex   +5 more sources

Congenital fiber type disproportion myopathy and novel compound heterozygous mutations in the RYR1 gene. Next generation sequencing – A first line diagnostic tool for congenital myopathy

Neuromuscular Disorders, 2016
K. Takamura, Joline C. Dalton, Peter I. Karachunski   +2 more
openalex   +2 more sources

Orthognathic Surgery in Primary Myopathies: Severe Case of Congenital Fiber Type Disproportion With Long-Term Follow-Up and Review of the Literature

Journal of Oral and Maxillofacial Surgery, 2011
Hadas Lehman, Doron Harari, Eyal Tarazi, Arie Stheyer, Nardy Casap   +4 more
openalex   +3 more sources

Severe Central Nervous System Involvement in a Patient With Congenital Fiber-Type Disproportion Myopathy

Journal of Child Neurology, 1996
Eiji Nakagawa, Matsuko Ozawa, Hideo Yamanouchi, Kenji Sugai, Yu‐ichi Goto, Ikuya Nonaka   +5 more
openalex   +2 more sources

[Myopathy, congenital fiber type disproportion].

Ryoikibetsu shokogun shirizu, 2001
A Yamamoto, Ichizo Nishino
openalex   +2 more sources

[The myopathy of congenital fiber type disproportion].

Minerva pediatrica, 1984
Carlo Minetti, Giovanni Meola, Elio Angelo Scarpini, Giuseppe Cordone, Massimo Bado, Guglielmo Scarlato   +5 more
openalex   +2 more sources

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[An unusual myopathy: the so-called congenital fiber-type disproportion].

Zeitschrift fur die gesamte innere Medizin und ihre Grenzgebiete, 1980
It is reported on a 19-year-old female patient with a congenital myopathic syndrome with deformities of the skeleton which could be recognized myopathologically as a so-called congenital fibre type disproportion. It is referred to the importance of the modern method of histochemistry.
J, Lössner, J, Ziegan, G, Oertel
openaire   +1 more source

Fiber density in congenital muscle fiber type disproportion. I. Congenital myopathies.

Electromyography and clinical neurophysiology, 1991
In 15 cases with congenital muscle fiber type disproportion, concentric needle EMG (CNEMG) and single fiber EMG (SFEMG) with fiber density (FD) estimation was performed. The aim of the work was to establish the nature of congenital muscle fiber type disproportion.
K, Rowińska-Marcińska, M H, Strugalska, I, Hausmanowa-Petrusewicz   +2 more
openaire   +1 more source

A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation

Neuromuscular Disorders, 2021
Zilda Maria Alves Meira, Sabrina Diniz, Mariz Vainzof   +2 more
exaly  

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion†

Human Mutation, 2010
Alan H. Beggs, Behzad Moghadaszadeh
exaly