Congenital Fiber-Type Disproportion Latest Advances

Find the Latest Research About Congenital Fiber-Type Disproportion

Last Updated: 02/24/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 1958 publications

Sporadic Late-Onset Nemaline Myopathy Presenting with Dropped Head Syndrome and Complicated with Sjögren's Syndrome: A Case Report.

Sporadic Late-Onset Nemaline Myopathy Presenting with Dropped Head Syndrome and Complicated with Sjögren's Syndrome: A Case Report.

Journal: Internal medicine (Tokyo, Japan)
Published: January 14, 2026

Sporadic Late-Onset Nemaline Myopathy Associated with Multiple Myeloma: A Case Report.

Sporadic Late-Onset Nemaline Myopathy Associated with Multiple Myeloma: A Case Report.

Journal: Internal medicine (Tokyo, Japan)
Published: December 03, 2025

DHHC21 is a STIM1 protein S-acyltransferase that modulates immune function in vivo.

DHHC21 is a STIM1 protein S-acyltransferase that modulates immune function in vivo.

Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025

Ca2+, ROS, IL-6, and p38 MAPK signaling loops underlying alterations in myotube formation induced by a severe MH/CCD mutation in RyR1.

Ca2+, ROS, IL-6, and p38 MAPK signaling loops underlying alterations in myotube formation induced by a severe MH/CCD mutation in RyR1.

Journal: American journal of physiology. Cell physiology
Published: November 10, 2025

Myosin inhibition partially rescues the myofibre proteome in X-linked myotubular myopathy.

Myosin inhibition partially rescues the myofibre proteome in X-linked myotubular myopathy.

Journal: JCI insight
Published: November 06, 2025

Natural History and Phenotypic Spectrum of Myofibrillar Myopathies and Myopathies Associated With MFM-Related Genes.

Natural History and Phenotypic Spectrum of Myofibrillar Myopathies and Myopathies Associated With MFM-Related Genes.

Journal: Neurology
Published: November 03, 2025

Inevitable Posterior Lower Segment Cesarean Section Due to Irreducible Uterine Torsion in a Woman Carrying X-Linked Myotubular Myopathy: A Case Report.

Inevitable Posterior Lower Segment Cesarean Section Due to Irreducible Uterine Torsion in a Woman Carrying X-Linked Myotubular Myopathy: A Case Report.

Journal: Cureus
Published: October 30, 2025

Molecular Insights into Central Core Disease: Proteomic Signatures and Potential Therapeutic Biomarkers in RYR1 I4895T Mice.

Molecular Insights into Central Core Disease: Proteomic Signatures and Potential Therapeutic Biomarkers in RYR1 I4895T Mice.

Journal: International journal of molecular sciences
Published: October 28, 2025

Therapeutic Challenges in Managing Triple-Negative Breast Cancer in a Patient With Central Core Disease.

Therapeutic Challenges in Managing Triple-Negative Breast Cancer in a Patient With Central Core Disease.

Journal: Cureus
Published: October 07, 2025

Monoclonal Gammopathy - the common denominator of sporadic late-onset nemaline myopathy and paraproteinemic neuropathy.

Monoclonal Gammopathy - the common denominator of sporadic late-onset nemaline myopathy and paraproteinemic neuropathy.

Journal: Neuromuscular disorders : NMD
Published: September 29, 2025

Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype.

Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype.

Journal: Journal of neuromuscular diseases
Published: September 19, 2025

Clinical and genetic features of 5 neonates with centronuclear myopathy caused by MTM1 gene variation

Clinical and genetic features of 5 neonates with centronuclear myopathy caused by MTM1 gene variation

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: September 17, 2025
Showing 1-12 of 1,958

Last Updated: 02/24/2026