Disorders

Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma

Synonym(s): BDMF, Bone Dysplasia with Malignant Fibrous Histiocytoma, Bone Dysplasia with Medullary Fibrosarcoma, DMSMFH, Myopathy, Limb-Girdle, with Bone Fragility

OMIM

Gene	Locus	Protein
MTAP	9p21	S-methyl-5'-thioadenosine phosphorylase

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.