Results 71 to 80 of about 7,618,843 (150)

Patterns of muscle Fiber-Type disproportion in hypotonic infants

, 1984
We studied the histochemical characteristics of muscle in five hypotonic infants. A number of different patterns of disproportion in the sizes and numbers of type 1 and type 2 fibers were found.
Argov, Z., Mastaglia, F.L., M. A. Johnson, Gardner-Medwin, D., D. Gardner-Medwin, F. L. Mastaglia, Z. Argov, Johnson, M.A.   +7 more
core   +1 more source

Congenital fiber type disproportion myopathy caused by LMNA mutations [PDF]

, 2013
幸子 梶野
openalex  

Congenital fiber type disproportion myopathy caused by LMNA mutations

Congenital fiber type disproportion myopathy caused by LMNA mutations
博士（医学） 甲第566号（主論文の要旨、要約）
openaire   +1 more source

Walsh & Hoyt: Background and Classification

, 2005
Some congenital, primarily nonprogressive myopathies affect the extraocular muscles. Although the disorders in this group are similar to one another clinically and are called collectively structurally defined congenital myopathies, they have distinctive ...
Paul H. Phillips, MD
core  

Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy-a case of severe neonatal presentation due to a <i>de novo</i> variant of uncertain significance. [PDF]

Front Pediatr
Sanghamitra S, Mandala R, Budh H, Arora Y, Rivera-Hernandez P, Hpa NJ, Elberson V, Rawat M, Mani S.   +8 more
europepmc   +1 more source

The Diagnostic Journey from Rhabdomyolysis to Myopathy with Tubular Aggregates: A Family-Based Case Report and Review of the Literature. [PDF]

Pediatr Rep
Ostojić S, Milenković S, Pavlović S, Kovačević G, Petrović G, Paripović A, Sarajlija A, Anđelković M, Gašić V, Radivojević D.   +9 more
europepmc   +1 more source

A novel deep intronic mutation expands the genotype spectrum of MYH7-related myopathies. [PDF]

Acta Myol
Barp A, Neri LM, Maggi L, Iascone M, Gualandi F.   +4 more
europepmc   +1 more source

The Role of Muscle Biopsy in the Era of Modern Genomic Medicine-A Review. [PDF]

J Clin Med
Sadeh M, Dabby R.
europepmc   +1 more source

Fine-tuning striated muscle performance: conserved sarcomere-level mechanisms across insect and vertebrate systems. [PDF]

Front Physiol
Matsui H, Chbihi Z, Mashni R, Hachem H, Snider S, Sujkowski A.   +5 more
europepmc   +1 more source

Clinical and Genetic Analysis of L-2-Hydroxyglutaric Aciduria Caused by a Novel <i>L2HGDH</i> Mutation with a Concurrent <i>RYR1</i> Variant. [PDF]

Genes (Basel)
Beyzaei Z, Dehghani SM, Geramizadeh B, Weiskirchen R.   +3 more
europepmc   +1 more source