MTM1 - Gene browser

MTM1

myotubularin 1

HCNC Approved Symbol: MTM1 (HGNC:7448)
Genomic Coordinates: 23:150,562,653 - 150,673,143 (Xq28)
Synonyms
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

14Patients

In total, 14 patients were diagnosed with a variant in the MTM1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

014
Patient count

Hypotonia: 4 (28.6%)
Patient Count: 4 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
4 (28.6%)
Weakness of facial musculature: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Hyporeflexia: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Myopathy: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Elevated serum creatine kinase: 1 (7.1%)
Patient Count: 1 (7.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (7.1%)