Chapter First Online: 06 October 2017 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]

There is one recent report of respiratory collapse secondary to TAM; this is only one case in 30 years, rarity upon rarity and not a worry. [braintalkcommunities.org]

The combination of pupillary abnormalities and TAs suggests that mitochondrial dysfunction may not explain the full extent of abnormalities in this case. [collections.lib.utah.edu]

abnormalities Pupillary abnormality [5] The STIM1 gene gives the body instructions to make a protein involved in controlling when calcium ions enter cells. [rarediseases.info.nih.gov]

/pathology; Muscle, Skeletal/physiopathology; Muscle, Smooth/pathology; Muscle, Smooth/physiopathology; Mutation/genetics; Pupil Disorders/etiology; Pupil Disorders/pathology; Pupil Disorders/physiopathology Abstract A 62-year-old man presented with diplopia [collections.lib.utah.edu]

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

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]

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]