Basophilic accumulations, which stained intensely with the NADH-TR reaction, were present in both fibre types. Electron microscopy revealed that these consisted of tightly packed parallel tubular arrays. [ncbi.nlm.nih.gov]

Recently, STIM1, encoding a major calcium sensor of the endoplasmic reticulum, was identified as a TAM gene.The present study aims to define the clinical, histological and ultrastructural phenotype of tubular aggregate myopathy and to assess the STIM1 [uniprot.org]

• Episodic Weakness

  Chapter First Online: 27 June 2014 Abstract This form of congenital myopathy is characterized by slowly progressive weakness without atrophy, myalgia, cramps, or episodic weakness and by muscle biopsy showing 60–90 % of fibers containing tubular aggregates [link.springer.com]

• Hypercapnic Respiratory Failure

  Acute hypercapnic respiratory failure (AHRF) is a common reason for hospital admission. Most patients have an underlying chronic lung disease such as chronic obstructive pulmonary disease. [ncbi.nlm.nih.gov]

• Miosis

  We present three members of an Italian family affected by tubular aggregate myopathy (TAM) and congenital miosis harboring a novel missense mutation in ORAI1. [ncbi.nlm.nih.gov]

  20 January 2017 This paper described three members of an Italian family affected by tubular aggregate myopathy (TAM) and congenital miosis harboring a novel missense mutation in ORAI1. [institut-myologie.org]

  […] a Stormorken-like syndrome of congenital miosis and tubular aggregate myopathy but without hematological abnormalities. [chdm.duke.edu]

• Winged Scapula

  (B) The patient exhibits winged scapulae due to atrophy of the paraspinal muscles. [ng.neurology.org]

• Anger

  France. 5 Scanner et IRM de la Roseraie, Angers, France. 6 Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. [ncbi.nlm.nih.gov]

• Dyslexia

  Gov't MeSH terms Amino Acid Sequence Animals Base Sequence Blood Platelet Disorders/genetics Blood Platelet Disorders/metabolism Calcium/metabolism Cells, Cultured Dyslexia/genetics Dyslexia/metabolism Erythrocytes, Abnormal/metabolism Female HEK293 Cells [ncbi.nlm.nih.gov]

• Mydriasis

  Taken together, the presence of reflex activity and the failure of phenylephrine mydriasis indicate that the abnormality is unlikely to be neuropathic in origin. [jnnp.bmj.com]

More on Genetics of Tubular aggregate myopathy » Treatments: Tubular aggregate myopathy Treatment : Currently, we are unaware of any targeted therapies for tubular aggregate myopathy. [familydiagnosis.com]

The biggest downer is being told by the medical profession that they know nothing about it and that there is no treatment. There definitely is treatment that helps some TAM folk. [braintalkcommunities.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

No effective treatment is known. [en.wikipedia.org]

Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [books.google.com]

In recent years, MDA-supported scientists have learned that centronuclear myopathies encompass a larger group of diseases than just X-linked myotubular myopathy, and that these types often have a better prognosis than the X-linked type. [mda.org]

[…] for Neurology and Neurosurgery Subject Biopsy; Chronic Disease; DNA Mutational Analysis; DNA, Mitochondrial/analysis; DNA, Mitochondrial/genetics; Gene Deletion; Humans; Inclusion Bodies/pathology; Iris/pathology; Iris/physiopathology; Iris Diseases/etiology [collections.lib.utah.edu]

Altogether, these results pave the way for understanding the etiology of this rare neuromuscular disorder that may be considered as a “tubular aggregates myopathy with synaptopathy”. [springermedizin.de]

No obvious pathophysiology groups are present in these diseases caused by loss-of-function mutations. Additional file 1 : Tables S7 and S8 list all gain-of-function and loss-of-function mutation candidates passed our computational filter. [ojrd.biomedcentral.com]

Tubular aggregates derive from the sarcoplasmic reticulum and are believed to represent an adaptive mechanism to regulate an increased intracellular level of calcium and prevent hypercontraction and necrosis of muscle fibers. [link.springer.com]

[…] kinaseマップキナーゼ MELAS syndromeMELAS症候群 MIN6 cellMIN6細胞 MODY若年発症成人型糖尿病 MSHメラニン細胞刺激ホルモン MafAMafA Maillard productMaillard 反応産生物 Maillard productマイヤール反応産生物 Maillard productメイラード反応産生物 Maillard reactionマイヤール反応 Management of elevated cholesterol in the primary prevention [jds.or.jp]