A novel homozygous ALPK3 variant associated with cardiomyopathy and skeletal muscle involvement

2021 ◽  
Author(s):  
C. Papadopoulos ◽  
K. Kekou ◽  
A. Anastasakis ◽  
M. Svingou ◽  
E. Malfatti ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Muscle Involvement ◽  
Skeletal Muscle Involvement

Skeletal muscle involvement in tropical spastic paraparesis/HTLV-1-associated myelopathy

1994 ◽  
Vol 17 (8) ◽  
pp. 923-930 ◽  
Author(s):  
Alberto Alain Gabbai ◽  
Clayton A. Wiley ◽  
Acary S. B. Oliveira ◽  
Ricardo Smith ◽  
Beny Schmidt ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Spastic Paraparesis ◽  
Tropical Spastic Paraparesis ◽  
Muscle Involvement ◽  
Skeletal Muscle Involvement

Relationship between Thyroid Function and Skeletal Muscle Involvement in Subclinical and Overt Hypothyroidism

2001 ◽  
Vol 11 (3) ◽  
pp. 217-221 ◽  
Author(s):  
Elisabeth Hartl ◽  
Josef Finsterer ◽  
Carmen Grossegger ◽  
Alois Kroiss ◽  
Claudia Stöllberger
Keyword(s):  
Skeletal Muscle ◽  
Thyroid Function ◽  
Overt Hypothyroidism ◽  
Muscle Involvement ◽  
Skeletal Muscle Involvement

Skeletal muscle involvement in infantile systemic hyalinosis

2003 ◽  
Vol 7 (6) ◽  
pp. 401-406 ◽  
Author(s):  
Zarazuela Zolkipli ◽  
Cheryl Longman ◽  
Sue Brown ◽  
Nazneen Rahman ◽  
S.E Holder ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Muscle Involvement ◽  
Infantile Systemic Hyalinosis ◽  
Skeletal Muscle Involvement

Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012542
Author(s):  
Shahar Shelly ◽  
Niaz Talha ◽  
Naveen L Pereira ◽  
Andrew G. Engel ◽  
Jonathan N Johnson ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Cardiac Transplantation ◽  
Amorphous Material ◽  
Age At Onset ◽  
Cardiac Transplant ◽  
Muscle Involvement ◽  
Cardiac Symptoms ◽  
Skeletal Muscle Involvement

Objective:We aimed to determine the genetic and clinical phenotypes of desmin-related myopathy patients and long-term outcomes after cardiac transplant.Methods:Retrospective review of cardiac and neurological manifestations of genetically confirmed desmin-related myopathy patients (Jan 1st, 1999-Jan 1st, 2020).Results:Twenty-five patients in 20 different families were recognized. Median age at onset of symptoms was 20 years (range: 4-50), median follow-up time of 36 months (range: 1-156). Twelve patients initially presented with skeletal muscle involvement and 13 with cardiac disease. Sixteen patients had both cardiac and skeletal muscle involvement. Clinically muscle weakness distribution was distal (n=11), proximal (n=4) or both (n=7) of 22 patients. Skeletal muscle biopsy from patients with missense and splice site variants (n=12) showed abnormal fibers containing amorphous material in Gomori trichrome stained sections. Patients with cardiac involvement had atrioventricular conduction abnormalities or cardiomyopathy. The most common ECG abnormality was complete AV block in 11 patients all of whom required a permanent pacemaker at a median age of 25 years (range: 16-48). Sudden cardiac death resulting in implantable cardioverter defibrillator (ICD) shocks or resuscitation were reported in 3 patients, a total of 5 patients had ICDs. Orthotopic cardiac transplantation was performed in 3 patients at 20, 35 and 39 years of age.Conclusions:Pathogenic variants in desmin can lead to varied neurological and cardiac phenotypes beginning at a young age. Two-thirds of the patients have both neurologic and cardiac symptoms usually starting in the third decade. Heart transplant was tolerated with improved cardiac function and quality of life.

Skeletal muscle involvement in Escobar syndrome

1985 ◽  
Vol 7 (6) ◽  
pp. 585-589 ◽  
Author(s):  
Kenji Yokochi ◽  
Sei Suzuki ◽  
Toyotaka Tanaka ◽  
Mie Asada ◽  
Ikuya Nonaka
Keyword(s):  
Skeletal Muscle ◽  
Muscle Involvement ◽  
Skeletal Muscle Involvement

Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement

Neurology ◽  
2016 ◽  
Vol 87 (21) ◽  
pp. 2235-2243 ◽  
Author(s):  
Andreas Unger ◽  
Gabriele Dekomien ◽  
Anne Güttsches ◽  
Thomas Dreps ◽  
Rudolf Kley ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Muscle Involvement ◽  
Skeletal Muscle Involvement
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