scholarly journals Laing Early-onset Distal Myopathy Due to the MYH7 Mutation in an Iranian Family

2019 ◽  
pp. 35-46
Author(s):  
Shabnam Ghazanfari-Sarabi ◽  
Mostafa Rayati ◽  
Mohammad Bagher Hashemi-Soteh
Keyword(s):  
Early Onset ◽  
Distal Myopathy ◽  
Iranian Family

Laing early-onset distal myopathy in a Belgian family

2014 ◽  
Vol 114 (4) ◽  
pp. 253-256 ◽  
Author(s):  
P. Y. K. Van den Bergh ◽  
J. J. Martin ◽  
F. Lecouvet ◽  
B. Udd ◽  
E. Schmedding
Keyword(s):  
Early Onset ◽  
Distal Myopathy

scholarly journals Complex sarcolemmal invaginations mimicking myotendinous junctions in a case of Laing early-onset distal myopathy

2015 ◽  
Vol 35 (6) ◽  
pp. 575-581 ◽  
Author(s):  
Gerald F. Reis ◽  
Grant de la Motte ◽  
Rebecca Gooding ◽  
Nigel G. Laing ◽  
Marta Margeta
Keyword(s):  
Early Onset ◽  
Distal Myopathy ◽  
Myotendinous Junctions

O7-4 Kelch-like homolog 9 (KLHL9) mutation is associated with an early onset autosomal dominant distal myopathy

2009 ◽  
Vol 13 ◽  
pp. S16
Author(s):  
S. Cirak ◽  
F.V. Deimling ◽  
S. Sachdev ◽  
W.J. Errington ◽  
R. Herrmann ◽  
...  
Keyword(s):  
Early Onset ◽  
Autosomal Dominant ◽  
Distal Myopathy

scholarly journals Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy

Brain ◽  
2010 ◽  
Vol 133 (7) ◽  
pp. 2123-2135 ◽  
Author(s):  
Sebahattin Cirak ◽  
Florian von Deimling ◽  
Shrikesh Sachdev ◽  
Wesley J. Errington ◽  
Ralf Herrmann ◽  
...  
Keyword(s):  
Early Onset ◽  
Autosomal Dominant ◽  
Distal Myopathy

scholarly journals Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)

2004 ◽  
Vol 75 (4) ◽  
pp. 703-708 ◽  
Author(s):  
Christopher Meredith ◽  
Ralf Herrmann ◽  
Cheryl Parry ◽  
Khema Liyanage ◽  
Danielle E. Dye ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Myosin Heavy Chain ◽  
Heavy Chain ◽  
Early Onset ◽  
Skeletal Muscle Fiber ◽  
Chain Gene ◽  
Distal Myopathy ◽  
Heavy Chain Gene ◽  
Myosin Heavy Chain Gene ◽  
Slow Skeletal Muscle

scholarly journals Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family

2021 ◽  
Vol 8 (1) ◽  
pp. e645
Author(s):  
Delia Gagliardi ◽  
Minoo Ahmadinejad ◽  
Roberto Del Bo ◽  
Megi Meneri ◽  
Giacomo Pietro Comi ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neurons ◽  
Early Onset ◽  
Neurodegenerative Disorder ◽  
Late Onset ◽  
Muscular Atrophy ◽  
Severe Form ◽  
Iranian Family ◽  
Fast Progression ◽  
Lateral Sclerosis

ObjectivesAmyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by degeneration of motor neurons determining progressive muscular atrophy, weakness, and death from respiratory failure.MethodsHere, we report clinical and molecular findings of a novel Iranian family affected with a severe form of early-onset familial ALS.ResultsThree siblings born to consanguineous parents developed a form of ALS characterized by early-onset lower limb involvement and a fast progression, proving fatal at age 16 years for 1 of them. Molecular analysis of the SOD1 gene revealed the homozygous substitution c.434T>C in exon 5 resulting in the amino acid change p.Leu144Ser (L144S), previously reported as a dominant variant. Both parents were heterozygous carriers. The probands' mother recently developed a late-onset ALS with predominant upper motor neuron involvement.DiscussionThis report adds p.L144S to the short list of homozygous SOD1 variants and suggests that the development of an earlier-onset and/or faster disease progression can occur when 2 mutated alleles are present.

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